Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
Open accessAbstract
Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). The majority of RTT patients carry missense and nonsense mutations leading to a hypomorphic MECP2, while null mutations leading to the complete absence of a functional protein are rare. MECP2 is an X-linked gene subject to random X-chromosome inactivation resulting in mosaic expression of mutant MECP2. The lack of human brain tissue motivates the need for alternative human cellular models to study RTT. Here we report the characterization of a MECP2 mutation in a classic female RTT patient involving rearrangements that remove exons 3 and 4 creating a functionally null mutation. To generate human neuron models of RTT, we isolated human induced pluripotent stem (hiPS) cells from RTT patient fibroblasts. RTT-hiPS cells retained the MECP2 mutation, are pluripotent and fully reprogrammed, and retained an inactive X-chromosome in a nonrandom pattern. Taking advantage of the latter characteristic, we obtained a pair of isogenic wild-type and mutant MECP2 expressing RTT-hiPS cell lines that retained this MECP2 expression pattern upon differentiation into neurons. Phenotypic analysis of mutant RTT-hiPS cell-derived neurons demonstrated a reduction in soma size compared with the isogenic control RTT-hiPS cell-derived neurons from the same RTT patient. Analysis of isogenic control and mutant hiPS cell-derived neurons represents a promising source for understanding the pathogenesis of RTT and the role of MECP2 in human neurons.
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hiPSC-derived neurons from patients with psychiatric disorders exhibit significant aberrations in neuronal connectivity, synapse maturation, and synaptic function compared with healthy controls.
“As a proof-of-principle, several recent studies have now shown that hiPSC-derived neurons from patients with psychiatric disorders exhibit significant aberrations in neuronal connectivity, synapse maturation, and synaptic function compared with those of healthy controls (Brennand et al., 2011; Cheung et al., 2011; Marchetto et al., 2010; Pasca et al., 2011).”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Cheung et al., 2011
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Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
Takahashi, K., Tanabe, K., Ohnuki, M., Narita, M., Ichisaka, T., Tomoda, K., & Yamanaka, S. (2007) · Cell · doi:10.1016/j.cell.2007.11.019 · Cited by 20,221 · see citing works
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
Yu, J., Vodyanik, M. A., Smuga-Otto, K., Antosiewicz-Bourget, J., Frane, J. L., Tian, S., Nie, J., Jonsdottir, G. A., Ruotti, V., Stewart, R., et al. (2007) · Science · doi:10.1126/science.1151526 · Cited by 10,310 · see citing works
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works
Nan, X., Ng, H.-H., Johnson, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., & Bird, A. (1998) · Nature · doi:10.1038/30764 · Cited by 3,440 · see citing works
Reprogramming of human somatic cells to pluripotency with defined factors
Park, I.-H., Zhao, R., West, J. A., Yabuuchi, A., Huo, H.-G., Ince, T., Lerou, P., Lensch, M., & Daley, G. Q. (2008) · Nature · doi:10.1038/nature06534 · Cited by 3,028 · see citing works
Disease-Specific Induced Pluripotent Stem Cells.
Park, I.-H., Arora, N., Huo, H., Maherali, N., Ahfeldt, T., Shimamura, A., Lensch, M. W., Cowan, C., Hochedlinger, K., & Daley, G. Q. (2008) · Cell · doi:10.1016/j.cell.2008.07.041 · Cited by 2,196 · cited 1× · see citing works
“D3–4-hiPS cells were fully reprogrammed, as retroviral transgenes were largely silenced and have simultaneously reactivated the endogenous loci of the reprogramming factors similar to previously published patient-specific hiPS cell lines (29,31,32) (Fig.”
ResultDimos, J. T., Rodolfa, K. T., Niakan, K. K., Weisenthal, L. M., Mitsumoto, H., Chung, W. K., Croft, G. F., Saphier, G., Leibel, R. L., Goland, R., et al. (2008) · Science · doi:10.1126/science.1158799 · Cited by 1,959 · see citing works
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823 · see citing works
Maherali, N., Sridharan, R., Xie, W., Utikal, J., Eminli, S., Arnold, K., Stadtfeld, M., Yachechko, R., Tchieu, J., Jaenisch, R., et al. (2007) · Cell stem cell · doi:10.1016/j.stem.2007.05.014 · Cited by 1,725 · see citing works
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558 · see citing works
Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515 · see citing works
Induced pluripotent stem cells from a spinal muscular atrophy patient
Ebert, A. D., Yu, J., Rose, F. F., Mattis, V. B., Lorson, C. L., Thomson, J. A., & Svendsen, C. N. (2009) · Nature · doi:10.1038/nature07677 · Cited by 1,441 · see citing works
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin.
Nan, X.-S., Campoy, F., & Bird, A. (1997) · Cell · doi:10.1016/s0092-8674(00)81887-5 · Cited by 1,403 · see citing works
Marchetto, M. C. N., Carromeu, C., Acab, A., Yu, D., Yeo, G. W., Mu, Y., Chen, G., Gage, F. H., & Muotri, A. R. (2010) · Cell · doi:10.1016/j.cell.2010.10.016 · Cited by 1,329 · see citing works
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R. (2001) · Nature Genetics · doi:10.1038/85906 · Cited by 1,275 · see citing works
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265 · see citing works
Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome
Moretti, A., Bellin, M., Welling, A., Jung, C. B., Lam, J. T., Bott-Flügel, L., Dorn, T., Goedel, A., Höhnke, C., Hofmann, F., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908679 · Cited by 1,251 · see citing works
Role of Histone H3 Lysine 27 Methylation in X Inactivation
Plath, K., Fang, J., Mlynarczyk‐Evans, S., Cao, R., Worringer, K. A., Wang, H., de la Cruz, C. C., Otte, A. P., Panning, B., & Zhang, Y. (2003) · Science · doi:10.1126/science.1084274 · Cited by 1,190 · see citing works
Modelling the long QT syndrome with induced pluripotent stem cells
Itzhaki, I., Maizels, L., Huber, I., Zwi-Dantsis, L., Caspi, O., Winterstern, A., Feldman, O., Gepstein, A., Arbel, G., Hammerman, H., et al. (2011) · Nature · doi:10.1038/nature09747 · Cited by 1,049 · see citing works
An association between migraine and cutaneous allodynia
Burstein, R., Yarnitsky, D., Goor‐Aryeh, I., Ransil, B. J., & Bajwa, Z. H. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 1,013 · see citing works
Hu, B., Weick, J. P., Yu, J., Ma, L., Zhang, X., Thomson, J. A., & Zhang, S. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910012107 · Cited by 1,007 · see citing works
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
Lee, G., Papapetrou, E. P., Kim, H., Chambers, S. M., Tomishima, M. J., Fasano, C. A., Ganat, Y. M., Menon, J., Shimizu, F., Viale, A. J., et al. (2009) · Nature · doi:10.1038/nature08320 · Cited by 867 · see citing works
Marked differences in differentiation propensity among human embryonic stem cell lines
Osafune, K., Caron, L., Borowiak, M., Martinez, R. J., Fitzgerald, C., Sato, Y., Cowan, C. A., Chien, K. R., & Melton, D. A. (2008) · Nature Biotechnology · doi:10.1038/nbt1383 · Cited by 815 · see citing works
Shahbazian, M. D., Young, J. I., Yuva‐Paylor, L. A., Spencer, C. M., Antalffy, B. A., Noebels, J. L., Armstrong, D. L., Paylor, R. E., & Zoghbi, H. Y. (2002) · Neuron · doi:10.1016/s0896-6273(02)00768-7 · Cited by 760 · see citing works
Xist-deficient mice are defective in dosage compensation but not spermatogenesis.Preprint
Marahrens, Y., Panning, B., Dausman, J. A., Strauss, W. M., & Jaenisch, R. (1997) · Genes & Development · doi:10.1101/gad.11.2.156 · Cited by 735 · see citing works
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
Carvajal-Vergara, X., Sevilla, A., D’Souza, S. L., Ang, Y.-S., Schaniel, C., Lee, D.-F., Yang, L., Kaplan, A. D., Adler, E. D., Rozov, R., et al. (2010) · Nature · doi:10.1038/nature09005 · Cited by 690 · see citing works
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
Nan, X., Meehan, R. R., & Bird, A. P. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.21.4886 · Cited by 605 · see citing works
Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells
Chan, E., Ratanasirintrawoot, S., Park, I.-H., Manos, P. D., Loh, Y., Huo, H.-G., Miller, J. D., Hartung, O., Rho, J., Ince, T., et al. (2009) · Nature Biotechnology · doi:10.1038/nbt.1580 · Cited by 529 · see citing works
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
Wan, M., Lee, S. S. J., Zhang, X., Houwink-Manville, I., Song, H.-R., Amir, R. E., Budden, S., Naidu, S., Pereira, J. L. P., Lo, I. F. M., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302690 · Cited by 520 · see citing works
Zhang, J., Lian, Q., Zhu, G., Zhou, F., Lin, S., Tan, C., Mutalif, R., Navasankari, R., Zhang, Y., Tse, H., et al. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.12.002 · Cited by 460 · see citing works
Kishi, N., & Macklis, J. D. (2004) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.07.006 · Cited by 445 · see citing works
X Chromosome–Inactivation Patterns of 1,005 Phenotypically Unaffected Females
Amos-Landgraf, J. M., Cottle, A. A., Plenge, R. M., Friez, M., Schwartz, C. E., Longshore, J. W., & Willard, H. F. (2006) · The American Journal of Human Genetics · doi:10.1086/507565 · Cited by 346 · see citing works
Human Genomic Deletions Mediated by Recombination between Alu Elements
Sen, S. K., Han, K., Wang, J., Lee, J., Wang, H., Callinan, P. A., Dyer, M. D., Cordaux, R., Liang, P., & Batzer, M. A. (2006) · The American Journal of Human Genetics · doi:10.1086/504600 · Cited by 337 · see citing works
Johnson, M. A., Weick, J. P., Pearce, R. A., & Zhang, S.-C. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.4562-06.2007 · Cited by 318 · see citing works
Li, X.-J., Zhang, X., Johnson, M. A., Wang, Z.-B., LaVaute, T. M., & Zhang, S. (2009) · Development · doi:10.1242/dev.036624 · Cited by 312 · see citing works
X-chromosome inactivation and epigenetic fluidity in human embryonic stem cells
Silva, S. S., Rowntree, R. K., Mekhoubad, S., & Lee, J. T. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0712136105 · Cited by 306 · see citing works
A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms
Kidd, J. M., Graves, T., Newman, T. L., Fulton, R. S., Hayden, H. S., Malig, M., Kallicki, J., Kaul, R., Wilson, R. K., & Eichler, E. E. (2010) · Cell · doi:10.1016/j.cell.2010.10.027 · Cited by 304 · see citing works
Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency
Hotta, A., Cheung, A. Y. L., Farra, N., Vijayaragavan, K., Séguin, C. A., Draper, J. S., Pasceri, P., Maksakova, I. A., Mager, D. L., Rossant, J., et al. (2009) · Nature Methods · doi:10.1038/nmeth.1325 · Cited by 298 · see citing works
Self-citationNeuropathology of Rett Syndrome
Armstrong, D. D. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200090901 · Cited by 282 · see citing works
MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin
Trappe, R. U., Laccone, F. A., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F. A., & Engel, W. (2001) · The American Journal of Human Genetics · doi:10.1086/320109 · Cited by 282 · see citing works
Female Human iPSCs Retain an Inactive X Chromosome
Tchieu, J. H., Kuoy, E., Chin, M. H., Trinh, H., Patterson, M., Sherman, S. P., Aimiuwu, O., Lindgren, A., Hakimian, S., Zack, J. A., et al. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.06.024 · Cited by 275 · see citing works
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
Conrad, D. F., Bird, C., Blackburne, B. P., Lindsay, S., Mamanova, L., Lee, C., Turner, D., & Hurles, M. E. (2010) · Nature Genetics · doi:10.1038/ng.564 · Cited by 257 · see citing works
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
Ben-Shachar, S., Chahrour, M., Thaller, C., Shaw, C. A., & Zoghbi, H. Y. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp181 · Cited by 253 · see citing works
Chadwick, B. P., & Willard, H. F. (2001) · The Journal of Cell Biology · doi:10.1083/jcb.152.2.375 · Cited by 223 · see citing works
Shen, Y., Matsuno, Y., Fouse, S. D., Rao, N. P., Root, S. H., Xu, R., Pellegrini, M. A., Riggs, A. D., & Fan, G. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0712018105 · Cited by 209 · see citing works
Neuropathology of Rett syndrome
Armstrong, D. D. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200082401 · Cited by 207 · see citing works
Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome
Bauman, M. L., Kemper, T. L., & Arin, D. M. (1995) · Neurology · doi:10.1212/wnl.45.8.1581 · Cited by 179 · see citing works
Ballestar, E., Yusufzai, T. M., & Wolffe, A. P. (2000) · Biochemistry · doi:10.1021/bi0001271 · Cited by 169 · see citing works
Functional consequences of Rett syndrome mutations on human MeCP2
Yusufzai, T. M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.21.4172 · Cited by 153 · see citing works
Young, J. I., & Zoghbi, H. Y. (2004) · The American Journal of Human Genetics · doi:10.1086/382228 · Cited by 141 · see citing works
Archer, H. L., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S. L., Charman, T., Bailey, M. E. S., Sampson, J. R., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.045260 · Cited by 109 · see citing works
Rett Syndrome: North American Database
Percy, A. K., Lane, J. B., Childers, J., Skinner, S. A., Annese, F., Barrish, J. O., Caeg, E., Glaze, D. G., & MacLeod, P. (2007) · Journal of Child Neurology · doi:10.1177/0883073807308715 · Cited by 100 · see citing works
Escape from X chromosome inactivation is an intrinsic property of the Jarid1c locus
Li, N., & Carrel, L. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0807765105 · Cited by 98 · see citing works
Self-citationEOS lentiviral vector selection system for human induced pluripotent stem cells
Hotta, A., Cheung, A. Y. L., Farra, N., Garcha, K., Chang, W. Y., Pasceri, P., Stanford, W. L., & Ellis, J. (2009) · Nature Protocols · doi:10.1038/nprot.2009.201 · Cited by 89 · see citing works
Self-citationSchüle, B., Armstrong, D., Vogel, H. S., Oviedo, A., & Francke, U. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01005.x · Cited by 89 · see citing works
Archer, H. L., Whatley, S. D., Evans, J. C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B. A., Sweeney, E., Davies, S. J., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.033464 · Cited by 87 · see citing works
Balanced X chromosome inactivation patterns in the Rett syndrome brain
Shahbazian, M. D., Sun, Y., & Zoghbi, H. Y. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10557 · Cited by 73 · see citing works
Small Deletion Variants Have Stable Breakpoints Commonly Associated with Alu Elements
de Smith, A. J., Walters, R. G., Coin, L., Steinfeld, I., Zohar Yakhini, B., SLADEK, R. M., Froguel, P., & Blakemore, A. I. F. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003104 · Cited by 65 · see citing works
Large genomic rearrangements in MECP2
Ravn, K., Nielsen, J. B., Skjeldal, O. H., Kerr, A., Hultén, M. A., & Schwartz, M. (2005) · Human Mutation · doi:10.1002/humu.9320 · Cited by 57 · see citing works
Hardwick, S. A., Reuter, K., Williamson, S. L., Vasudevan, V., Donald, J. A., Slater, K., Bennetts, B., Bebbington, A., Leonard, H., Williams, S. R., et al. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201911 · Cited by 54 · see citing works
MECP2 deletions and genotype–phenotype correlation in Rett syndrome
Scala, E., Longo, I., Ottimo, F., Speciale, C., Sampieri, K., Katzaki, E., Artuso, R., Mencarelli, M. A., D'Ambrogio, T., Vonella, G., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32002 · Cited by 52 · see citing works
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CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
Neurodevelopmental model of schizophrenia: update 2012
Rapoport, J. L., Giedd, J. N., & Gogtay, N. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.23 · Cited by 790 · see citing works
Induced pluripotent stem cells: the new patient?
Bellin, M., Marchetto, M. C., Gage, F. H., & Mummery, C. L. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3448 · Cited by 432 · see citing works
Genetic and Epigenetic Variations in iPSCs: Potential Causes and Implications for Application
Liang, G., & Zhang, Y. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.07.001 · Cited by 368 · see citing works
Erosion of Dosage Compensation Impacts Human iPSC Disease Modeling
Mekhoubad, S., Bock, C., de Boer, A. S., Kiskinis, E., Meissner, A., & Eggan, K. C. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.02.014 · Cited by 362 · see citing works
MBNL proteins repress ES-cell-specific alternative splicing and reprogramming
Han, H. R., Irimia, M., Ross, P. J., Sung, H., Alipanahi, B., David, L., Golipour, A., Gabut, M., Michael, I. P., Nachman, E. N., et al. (2013) · Nature · doi:10.1038/nature12270 · Cited by 326 · see citing works
Self-citationEpigenetics of Reprogramming to Induced Pluripotency
Papp, B., & Plath, K. (2013) · Cell · doi:10.1016/j.cell.2013.02.043 · Cited by 319 · see citing works
Li, Y., Wang, H., Muffat, J., Cheng, A. W., Orlando, D. A., Lovén, J., Kwok, S., Feldman, D., Bateup, H. S., Gao, Q., et al. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.09.001 · Cited by 305 · see citing works
The human brain in a dish: The promise of iPSC-derived neurons
Dolmetsch, R., & Geschwind, D. (2011) · Cell · doi:10.1016/j.cell.2011.05.034 · Cited by 313 · see citing works
The promises and challenges of human brain organoids as models of neuropsychiatric disease
Quadrato, G., Brown, J., & Arlotta, P. (2016) · Nature Medicine · doi:10.1038/nm.4214 · Cited by 304 · see citing works
Applications of CRISPR–Cas systems in neuroscience
Heidenreich, M., & Zhang, F. (2015) · Nature reviews. Neuroscience · doi:10.1038/nrn.2015.2 · Cited by 282 · see citing works
Investigating human disease using stem cell models
Sterneckert, J. L., Reinhardt, P., & Schöler, H. R. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3764 · Cited by 249 · see citing works
Usage of Human Mesenchymal Stem Cells in Cell-based Therapy: Advantages and Disadvantages
Kim, H. J., & Park, J. (2017) · Development & Reproduction · doi:10.12717/dr.2017.21.1.001 · Cited by 246 · see citing works
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
Kim, K., Hysolli, E., & Park, I. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1018979108 · Cited by 212 · see citing works
Pluripotent Stem Cells: Current Understanding and Future Directions
Romito, A., & Cobellis, G. (2015) · Stem Cells International · doi:10.1155/2016/9451492 · Cited by 224 · see citing works
Ananiev, G. E., Williams, E. C., Li, H., & Chang, Q. (2011) · PLoS ONE · doi:10.1371/journal.pone.0025255 · Cited by 203 · see citing works
Human Models Are Needed for Studying Human Neurodevelopmental Disorders
Zhao, X., & Bhattacharyya, A. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.10.009 · Cited by 192 · see citing works
Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises
Marchetto, M. C., Brennand, K., Boyer, L. F., & Gage, F. H. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr336 · Cited by 185 · see citing works
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Egashira, T., Yuasa, S., Suzuki, T., Aizawa, Y., Yamakawa, H., Matsuhashi, T., Ohno, Y., Tohyama, S., Okata, S., Seki, T., et al. (2012) · Cardiovascular Research · doi:10.1093/cvr/cvs206 · Cited by 178 · see citing works
SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons
Zaslavsky, K., Zhang, W.-B., McCready, F. P., Rodrigues, D. C., Deneault, E., Loo, C., Zhao, M., Ross, P. J., El Hajjar, J., Romm, A., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0365-8 · Cited by 174 · see citing works
Self-citationAnguera, M. C., Sadreyev, R. I., Zhang, Z.-Q., Szántó, A., Payer, B., Sheridan, S., Kwok, S.-M., Haggarty, S., Sur, M., Alvarez, J., et al. (2012) · Cell Stem Cell · doi:10.1016/j.stem.2012.03.008 · Cited by 160 · see citing works
Human induced pluripotent stem cells for modelling neurodevelopmental disorders
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Constructing and Deconstructing Stem Cell Models of Neurological Disease
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Robinson, L., Guy, J., McKay, L., Brockett, E., Spike, R. C., Selfridge, J., De Sousa, D., Merusi, C., Riedel, G., Bird, A., et al. (2012) · Brain · doi:10.1093/brain/aws096 · Cited by 157 · see citing works
Signaling defects in iPSC-derived fragile X premutation neurons
Liu, J., Koscielska, K. A., Cao, Z., Hulsizer, S., Grace, N., Mitchell, G., Nacey, C., Githinji, J., McGee, J., Garcia-Arocena, D., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds207 · Cited by 144 · see citing works
Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome
De Felice, C., Della Ragione, F., Signorini, C., Leoncini, S., Pecorelli, A., Ciccoli, L., Scalabrì, F., Marracino, F., Madonna, M., Belmonte, G., et al. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.04.006 · Cited by 126 · see citing works
Modeling psychiatric disorders at the cellular and network levels
Brennand, K. J., Simone, A., Tran, N., & Gage, F. H. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.20 · Cited by 119 · see citing works
Farra, N., Zhang, W.-B., Pasceri, P., Eubanks, J. H., Salter, M. W., & Ellis, J. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.180 · Cited by 116 · see citing works
Self-citationKathuria, A., Nowosiad, P., Jagasia, R., Aigner, S., Taylor, R. D., Andreae, L. C., Gatford, N. J. F., Lucchesi, W., Srivastava, D. P., & Price, J. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.185 · Cited by 114 · see citing works
Epileptic Encephalopathies: New Genes and New Pathways
Nieh, S. E., & Sherr, E. H. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0301-2 · Cited by 110 · see citing works
Histone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior
Nott, A., Cheng, J., Gao, F., Lin, Y.-T., Gjoneska, E., Ko, T., Minhas, P., Zamudio, A. V., Meng, J., Zhang, F., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4347 · Cited by 110 · see citing works
Derivation Conditions Impact X-Inactivation Status in Female Human Induced Pluripotent Stem Cells
Tomoda, K., Takahashi, K., Leung, K., Okada, A., Narita, M., Yamada, N. A., Eilertson, K. E., Tsang, P. W. K., Baba, S., White, M. P., et al. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.05.019 · Cited by 109 · see citing works
Modeling human neurological disorders with induced pluripotent stem cells
Imaizumi, Y., & Okano, H. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12625 · Cited by 108 · see citing works
Epigenetic aberrations in human pluripotent stem cells
Bar, S., & Benvenisty, N. (2019) · The EMBO Journal · doi:10.15252/embj.2018101033 · Cited by 105 · see citing works
Gabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103 · see citing works
Current status of drug screening and disease modelling in human pluripotent stem cells
Rajamohan, D., Matsa, E., Kalra, S., Crutchley, J., Patel, A. K., George, V. T., & Denning, C. N. (2012) · BioEssays · doi:10.1002/bies.201200053 · Cited by 100 · see citing works
Pomp, O., Dreesen, O., Leong, D. F. M., Meller-Pomp, O., Tan, T. T., Zhou, F., & Colman, A. (2011) · Cell stem cell · doi:10.1016/j.stem.2011.06.004 · Cited by 94 · see citing works
Andoh-Noda, T., Akamatsu, W., Miyake, K., Matsumoto, T., Yamaguchi, R., Sanosaka, T., Okada, Y., Kobayashi, T., Ohyama, M., Nakashima, K., et al. (2015) · Molecular Brain · doi:10.1186/s13041-015-0121-2 · Cited by 91 · see citing works
X Chromosome Inactivation and Epigenetic Responses to Cellular Reprogramming
Lessing, D., & Lee, J. T. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153530 · Cited by 90 · see citing works
Djuric, U., Cheung, A. Y. L., Zhang, W., Mok, R. S. F., Lai, W., Piekna, A., Hendry, J. A., Ross, P. J., Pasceri, P., Kim, D. S., et al. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.01.001 · Cited by 87 · see citing works
Self-citationModeling psychiatric disorders: from genomic findings to cellular phenotypes
Falk, A., Heine, V. M., Harwood, A. J., Sullivan, P. F., Peitz, M., Brüstle, O., Shen, S., Sun, Y.-M., Glover, J. C., Posthuma, D., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.89 · Cited by 86 · see citing works
iPS cells to model CDKL5-related disorders
Amenduni, M., Filippis, R. D., Cheung, A. Y. L., Disciglio, V., Epistolato, M. C., Ariani, F., Mari, F., Mencarelli, M. A., Hayek, Y., Renieri, A., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.131 · Cited by 85 · see citing works
Self-citationModeling psychiatric disorders with patient-derived iPSCs
Wen, Z., Christian, K. M., Song, H., & Ming, G.-L. (2016) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2015.11.003 · Cited by 84 · see citing works
Synaptic Dysfunction in Human Neurons With Autism-Associated Deletions in PTCHD1-AS
Ross, P. J., Zhang, W., Mok, R. S. F., Zaslavsky, K., Deneault, É., D’Abate, L., Rodrigues, D. C., Yuen, R. K. C., Faheem, M., Mufteev, M., et al. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.07.014 · Cited by 84 · see citing works
Self-citationYazdani, M., Deogracias, R., Guy, J., Poot, R. A., Bird, A. P., & Barde, Y. (2012) · Stem Cells · doi:10.1002/stem.1180 · Cited by 82 · see citing works
Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence
Ohashi, M., Korsakova, E., Allen, D., Lee, P., Fu, K., Vargas, B. S., Cinkornpumin, J., Salas, C., Park, J. C., Germanguz, I., et al. (2018) · Stem Cell Reports · doi:10.1016/j.stemcr.2018.04.001 · Cited by 80 · see citing works
Concise Review: Drug Discovery in the Age of the Induced Pluripotent Stem Cell
Ko, H. C., & Gelb, B. D. (2014) · Stem Cells Translational Medicine · doi:10.5966/sctm.2013-0162 · Cited by 79 · see citing works
Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons
Liu, X., Campanac, E., Cheung, H., Ziats, M. N., Canterel-Thouennon, L., Raygada, M. J., Baxendale, V., Pang, A. L., Yang, L., Swedo, S. E., et al. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9961-8 · Cited by 81 · see citing works
Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons
Habela, C. W., Song, H., & Ming, G. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.12.002 · Cited by 79 · see citing works
Kinnear, C., Chang, W. Y., Khattak, S., Hinek, A., Thompson, T., Rodrigues, D. C., Kennedy, K., Mahmut, N., Pasceri, P., Stanford, W. L., et al. (2012) · Stem Cells Translational Medicine · doi:10.5966/sctm.2012-0054 · Cited by 73 · see citing works
Self-citationComparing ESC and iPSC—Based Models for Human Genetic Disorders
Halevy, T., & Urbach, A. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3041146 · Cited by 75 · see citing works
Kramer, A. S., Harvey, A. R., Plant, G. W., & Hodgetts, S. I. (2012) · Cell Transplantation · doi:10.3727/096368912x655208 · Cited by 73 · see citing works
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy
Turner, T. J., Zourray, C., Schorge, S., & Lignani, G. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15168 · Cited by 71 · see citing works
Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD
Kim, D.-S., Ross, P. J., Zaslavsky, K., & Ellis, J. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00109 · Cited by 70 · see citing works
Self-citationHigh-throughput fingerprinting of human pluripotent stem cell fate responses and lineage bias
Nazareth, E. J. P., Östblom, J., Lücker, P. B., Shukla, S., Alvarez, M., Oh, S. K. W., Yin, T., & Zandstra, P. W. (2013) · Nature Methods · doi:10.1038/nmeth.2684 · Cited by 70 · see citing works
Livide, G., Patriarchi, T., Amenduni, M., Amabile, S., Yasui, D. H., Calcagno, E., Rizzo, C. L., Falco, G. D., Ulivieri, C., Ariani, F., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.81 · Cited by 68 · see citing works
Rodrigues, D. C., Mufteev, M., Weatheritt, R. J., Djuric, U., Ha, K., Ross, P. J., Wei, W., Piekna, A., Sartori, M. A., Byres, L., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2020.02.107 · Cited by 67 · see citing works
Self-citationXu, X., & Zhong, Z. (2013) · Acta Pharmacologica Sinica · doi:10.1038/aps.2013.63 · Cited by 64 · see citing works
CREB Signaling Is Involved in Rett Syndrome Pathogenesis
Bu, Q., Wang, A., Hamzah, H., Waldman, A. D., Jiang, K., Dong, Q., Li, R., Kim, J., Turner, D., & Chang, Q. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.3735-16.2017 · Cited by 64 · see citing works
Modeling psychiatric disorders through reprogramming
Brennand, K., & Gage, F. H. (2011) · Disease Models & Mechanisms · doi:10.1242/dmm.008268 · Cited by 66 · see citing works
Generating Human Neurons In Vitro and Using Them to Understand Neuropsychiatric Disease
Pașca, S. P., Panagiotakos, G., & Dolmetsch, R. E. (2014) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062012-170328 · Cited by 64 · see citing works
Tanaka, T., Takahashi, K., Yamane, M., Tomida, S., Nakamura, S., Oshima, K., Niwa, A., Nishikomori, R., Kambe, N., Hara, H., et al. (2012) · Blood · doi:10.1182/blood-2012-03-417881 · Cited by 64 · see citing works
Rodrigues, D. C., Kim, D. S., Yang, G., Zaslavsky, K., Ha, K., Mok, R. S. F., Ross, P. J., Zhao, M., Piekna, A., Wei, W., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.09.049 · Cited by 63 · see citing works
Self-citationHuman pluripotent stem cells for disease modelling and drug screening
Maury, Y., Gauthier, M., Peschanski, M., & Martinat, C. (2011) · BioEssays · doi:10.1002/bies.201100071 · Cited by 62 · see citing works
The Pharmacology of Regenerative Medicine
Christ, G. J., Saul, J. M., Furth, M. E., & Andersson, K. (2013) · Pharmacological Reviews · doi:10.1124/pr.112.007393 · Cited by 61 · see citing works
Völkner, M., Wagner, F., Steinheuer, L. M., Carido, M., Kurth, T., Yazbeck, A. M., Schor, J., Wieneke, S., Ebner, L. J. A., Runzer, C. D. T., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33848-y · Cited by 57 · see citing works
Psychiatry in a Dish: Stem Cells and Brain Organoids Modeling Autism Spectrum Disorders
Ilieva, M. S., Svenningsen, Å. F., Thorsen, M., & Michel, T. M. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.11.011 · Cited by 61 · see citing works
Corti, S. P., Faravelli, I., Cardano, M., & Conti, L. (2015) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.2015.1037737 · Cited by 59 · see citing works
Srikanth, P., & Young‐Pearse, T. L. (2014) · Journal of Neurogenetics · doi:10.3109/01677063.2014.881358 · Cited by 56 · see citing works
Brennand, K., Landek‐Salgado, M. A., & Sawa, A. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.10.025 · Cited by 57 · see citing works
Minkovsky, A., Patel, S. G., & Plath, K. (2011) · Stem Cells · doi:10.1002/stem.755 · Cited by 56 · see citing works
Advancing drug discovery for neuropsychiatric disorders using patient-specific stem cell models
Haggarty, S. J., Silva, M. C., Cross, A. J., Brandon, N. J., & Perlis, R. H. (2016) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2016.01.011 · Cited by 56 · see citing works
X-Chromosome Inactivation in Rett Syndrome Human Induced Pluripotent Stem Cells
Cheung, A. Y. L., Horvath, L. M., Carrel, L., & Ellis, J. (2012) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2012.00024 · Cited by 52 · see citing works
Self-citationLanducci, E., Brindisi, M., Bianciardi, L., Catania, L. M., Daga, S., Croci, S., Frullanti, E., Fallerini, C., Butini, S., Brogi, S., et al. (2018) · Experimental Cell Research · doi:10.1016/j.yexcr.2018.05.001 · Cited by 56 · see citing works
Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells
Barakat, T. S., Ghazvini, M., de Hoon, B., Li, T. M. W. Y., Eussen, B., Douben, H., van der Linden, R., van der Stap, N., Boter, M., Laven, J. S. E., et al. (2015) · Stem Cell Reports · doi:10.1016/j.stemcr.2014.12.012 · Cited by 51 · see citing works
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation
Hildebrandt, M. R., Reuter, M. S., Wei, W., Tayebi, N., Liu, J., Sharmin, S., Mulder, J., Lesperance, L. S., Brauer, P. M., Mok, R. S. F., et al. (2019) · Stem Cell Reports · doi:10.1016/j.stemcr.2019.11.003 · Cited by 50 · see citing works
Self-citationAcharya, P., Choi, N.-Y., Shrestha, S., Jeong, S., & Lee, M.-Y. (2023) · Biotechnology and Bioengineering · doi:10.1002/bit.28606 · Cited by 38 · see citing works
Probing disorders of the nervous system using reprogramming approaches
Ichida, J. K., & Kiskinis, E. (2015) · The EMBO Journal · doi:10.15252/embj.201591267 · Cited by 51 · see citing works
Modeling Psychiatric Disorder Biology with Stem Cells
Das, D., Feuer, K. L., Wahbeh, M. H., & Avramopoulos, D. (2020) · Current Psychiatry Reports · doi:10.1007/s11920-020-01148-1 · Cited by 47 · see citing works
REPROGRAMMING PATIENT-DERIVED CELLS TO STUDY THE EPILEPIES
Parent, J., & Anderson, S. A. (2015) · Nature Neuroscience · doi:10.1038/nn.3944 · Cited by 58 · see citing works
iPSC-derived neurons as a higher-throughput readout for autism: promises and pitfalls
Prilutsky, D., Palmer, N., Smedemark-Margulies, N., Schlaeger, T. M., Margulies, D. M., & Kohane, I. S. (2013) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2013.11.004 · Cited by 48 · see citing works
Transcriptomics analysis of iPSC-derived neurons and modeling of neuropsychiatric disorders
Lin, M., Lachman, H. M., & Zheng, D. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.11.009 · Cited by 48 · see citing works
Sabitha, K. R., Shetty, A. K., & Upadhya, D. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.12.025 · Cited by 48 · see citing works
Early Actions of Neurotransmitters During Cortex Development and Maturation of Reprogrammed Neurons
Ojeda, J., & Ávila, A. (2019) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2019.00033 · Cited by 46 · see citing works
Spatiotemporal Proteomic Profiling of Human Cerebral Development
Djuric, U., Rodrigues, D. C., Batruch, I., Ellis, J., Shannon, P. T., & Diamandis, P. (2017) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m116.066274 · Cited by 45 · see citing works
Self-citationSmall Molecule Screening in Human Induced Pluripotent Stem Cell-derived Terminal Cell Types
Engle, S. J., & Vincent, F. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.r113.529156 · Cited by 44 · see citing works
Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome
Khattak, S., Brimble, E., Zhang, W., Zaslavsky, K., Strong, E., Ross, P. J., Hendry, J. A., Mital, S. R., Salter, M. W., Osborne, L. R., et al. (2015) · Molecular Brain · doi:10.1186/s13041-015-0168-0 · Cited by 42 · see citing works
Self-citationBarral, S., & Kurian, M. A. (2016) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2016.00078 · Cited by 44 · see citing works
Kruth, K., Grisolano, T. M., Ahern, C. A., & Williams, A. J. (2020) · Molecular Autism · doi:10.1186/s13229-020-00330-9 · Cited by 44 · see citing works
Briggs, S. F., Dominguez, A. A., Chavez, S. L., & Pera, R. A. R. (2015) · Stem Cells · doi:10.1002/stem.1992 · Cited by 43 · see citing works
Modeling neurodevelopmental disorders using human neurons
Chailangkarn, T., Acab, A., & Muotri, A. R. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.04.004 · Cited by 43 · see citing works
Induced pluripotent stem cells for modeling neurological disorders
Russo, F. B. (2015) · World Journal of Transplantation · doi:10.5500/wjt.v5.i4.209 · Cited by 43 · see citing works
Yang, G., & Shcheglovitov, A. (2019) · Developmental Dynamics · doi:10.1002/dvdy.100 · Cited by 44 · see citing works
Modeling Neurodevelopmental Disorders Using Human Pluripotent Stem Cells
Telias, M., & Ben-Yosef, D. (2014) · Stem Cell Reviews and Reports · doi:10.1007/s12015-014-9507-2 · Cited by 42 · see citing works
Systematic optimization of human pluripotent stem cells media using Design of Experiments
Marinho, P. A., Chailangkarn, T., & Muotri, A. R. (2015) · Scientific Reports · doi:10.1038/srep09834 · Cited by 42 · see citing works
The Path from Skin to Brain: Generation of Functional Neurons from Fibroblasts
Abdullah, A. I., Pollock, A., & Sun, T. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8277-6 · Cited by 42 · see citing works
Induced Pluripotent Stem Cell Potential in Medicine, Specifically Focused on Reproductive Medicine
Botman, O., & Wyns, C. (2014) · Frontiers in Surgery · doi:10.3389/fsurg.2014.00005 · Cited by 41 · see citing works
Tidball, A. M., & Parent, J. M. (2015) · Stem Cells · doi:10.1002/stem.2203 · Cited by 41 · see citing works
Regulation of X-chromosome dosage compensation in human: mechanisms and model systems
Sahakyan, A., Plath, K., & Rougeulle, C. (2017) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2016.0363 · Cited by 39 · see citing works
Evolving toward a human-cell based and multiscale approach to drug discovery for CNS disorders
Schadt, E. E., Buchanan, S., Brennand, K. J., & Merchant, K. M. (2014) · Frontiers in Pharmacology · doi:10.3389/fphar.2014.00252 · Cited by 39 · see citing works
- Authors
- Cheung, A. Y. L., Horvath, L. M., Grafodatskaya, D., Pasceri, P., Weksberg, R., Hotta, A., Carrel, L., & Ellis, J.
- Affiliations
- University of Toronto (CA)
- Pennsylvania State University (US)
- Hospital for Sick Children (CA)
- Biologie du Développement et Cellules Souches (FR)
- Corresponding author
- Ellis, James
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-03-03
- Volume
- 20
- Issue
- 11
- Pages
- 2103-2115
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC3090191
- OpenAlex
- W2103756619
- Cited by
- 271
- References
- 61
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 13 · 2023: 15 · 2022: 5 · 2021: 3 · 2020: 21 · 2019: 15 · 2018: 19 · 2017: 19 · 2016: 20 · 2015: 30 · 2014: 19 · 2013: 24 · 2012: 42
- FWCI
- 20.35
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Human Molecular Genetics (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- Canadian Institutes of Health Research (RMF92090, 94505_1, MOP102649)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD056452, R01HD056452)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Keywords
- Rett syndrome, MeCP2, X chromosome inactivation, induced pluripotent stem cells, isogenic cell lines, fibroblast reprogramming, neurodevelopmental disorders, autism spectrum disorder
- MeSH terms
- Brain, Cell Differentiation, Cell Line, Chromosome Mapping, Exons, Female, Gene Expression Regulation, Genotype, Humans, Immunohistochemistry, Karyotyping, Male, Mutation, Neurons, Phenotype, Rett Syndrome, DNA Fingerprinting, Chromosomes, Human, X, X Chromosome Inactivation, Genes, X-Linked, Methyl-CpG-Binding Protein 2, Induced Pluripotent Stem Cells
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