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Disease-Specific Induced Pluripotent Stem Cells.
Open accessAbstract
Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely limited to tumor cell lines or transformed derivatives of native tissues. Here we describe the generation of induced pluripotent stem (iPS) cells from patients with a variety of genetic diseases with either Mendelian or complex inheritance; these diseases include adenosine deaminase deficiency-related severe combined immunodeficiency (ADA-SCID), Shwachman-Bodian-Diamond syndrome (SBDS), Gaucher disease (GD) type III, Duchenne (DMD) and Becker muscular dystrophy (BMD), Parkinson disease (PD), Huntington disease (HD), juvenile-onset, type 1 diabetes mellitus (JDM), Down syndrome (DS)/trisomy 21, and the carrier state of Lesch-Nyhan syndrome. Such disease-specific stem cells offer an unprecedented opportunity to recapitulate both normal and pathologic human tissue formation in vitro, thereby enabling disease investigation and drug development.
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“The first iPSCs reprogrammed from an individual with DS were reported in 2008 (Park et al., 2008) and multiple lines have been created from multiple different individuals since then.”
From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as Park et al., 2008
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Cites
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“In contrast, introducing a set of transcription factors linked to pluripotency can directly reprogram human somatic cells to produce induced pluripotent stem (iPS) cells, a method that has been achieved by several groups worldwide (Lowry et al., 2008; Park et al., 2008b; Takahashi et al., 2007; Yu et al., 2007).”
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“In contrast, introducing a set of transcription factors linked to pluripotency can directly reprogram human somatic cells to produce induced pluripotent stem (iPS) cells, a method that has been achieved by several groups worldwide (Lowry et al., 2008; Park et al., 2008b; Takahashi et al., 2007; Yu et al., 2007).”
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“Following 2 to 3 weeks of culture in hES cell-supporting conditions, compact refractile ES-like colonies emerged among a background of fibroblasts, as previously described (Park et al., 2008a, 2008b).”
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“Multiplex PCR analysis with primer sets amplifying several (but not all) intragenic intervals of the dystrophin gene (Beggs et al., 1990; Chamberlain et al., 1988) revealed the deletion of exons 45–52 in the iPS cells derived from a patient with Duchenne muscular dystrophy (DMD; Figure 1C).”
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“…from a carrier of Lesch-Nyhan syndrome using five doxycycline-inducible lentiviral vectors (OCT4, SOX2, KLF4, c-MYC, and NANOG), a strategy that has been used to isolate murine iPS cells (Brambrink et al., 2008; Stadtfeld et al., 2008) but previously had not been attempted with human somatic cells.”
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“…from a carrier of Lesch-Nyhan syndrome using five doxycycline-inducible lentiviral vectors (OCT4, SOX2, KLF4, c-MYC, and NANOG), a strategy that has been used to isolate murine iPS cells (Brambrink et al., 2008; Stadtfeld et al., 2008) but previously had not been attempted with human somatic cells.”
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Research works printed but not linked: 1
- Hirschhorn, 1993, Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050–54) unusual for not being missense mutations, Hum. Mutat., 2, 320, 10.1002/humu.1380020415 · DOI
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A Human Stem Cell Model of Early Alzheimer’s Disease Pathology in Down Syndrome
Shi, Y., Kirwan, P., Smith, J., MacLean, G., Orkin, S. H., & Livesey, F. J. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003771 · Cited by 310
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InfluentialSkeletal muscle tissue engineering: methods to form skeletal myotubes and their applications
Ostrovidov, S., Hosseini, V., Ahadian, S., Fujie, T., Parthiban, S. P., Ramalingam, M., Bae, H., Kaji, H., & Khademhosseini, A. (2014) · Tissue Engineering Part B: Reviews · doi:10.1089/ten.teb.2013.0534 · Cited by 302
“Moreover, iPS cells can be generated from genetic-disease tissues and can be used for specific disease study and drug screening.(343) Myogenic progenitors can be derived from iPS cells and when transplanted in dystrophic mice have been shown to efficiently engraft, to replenish the SC pool, to regenerate dystrophin-po…”
Notch Signaling in the Regulation of Stem Cell Self-Renewal and Differentiation
Liu, J., Sato, C., Cerletti, M., & Wagers, A. J. (2010) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/s0070-2153(10)92012-7 · Cited by 318
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 279
“To date, hiPSCs have been generated from patients with a variety of genetic diseases including ALS, SMA, Parkinson disease, Huntington disease, juvenile-onset, type 1 diabetes mellitus, and Down syndrome (Dimos et al., 2008; Ebert et al., 2009; Park et al., 2008), and should also be invaluable for studies of X-linked…”
BackgroundZhang, J., Nuebel, E., Wisidagama, D. R., Setoguchi, K., Hong, J. S., Horn, C. M. V., Imam, S. S., Vergnes, L., Malone, C. S., Koehler, C. M., et al. (2012) · Nature Protocols · doi:10.1038/nprot.2012.048 · Cited by 285
Turning straw into gold: directing cell fate for regenerative medicine
Cohen, D. E., & Melton, D. A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2938 · Cited by 299
“Hedgehog family (3) Activators SHH Induction of motor neurons 24”
BackgroundItoh, M., Kiuru, M., Cairo, M. S., & Christiano, A. M. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1100332108 · Cited by 282
Hwang, N. S., Varghese, S., Lee, H. J., Zhang, Z.-J., Ye, Z.-H., Bae, J., Cheng, L.-Z., & Elisseeff, J. (2008) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.0809680106 · Cited by 282
“The potential application of these cells has been further enabled by recent advances in creating embryonic-like stem cells from adult skin cells that can easily be harvested from a patient (3, 4).”
BackgroundThe Stem Cell Niche in Regenerative Medicine
Wagers, A. J. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.02.018 · Cited by 281
Stepwise differentiation of pluripotent stem cells into retinal cells
Osakada, F., Ikeda, H. O., Sasai, Y., & Takahashi, M. (2009) · Nature Protocols · doi:10.1038/nprot.2009.51 · Cited by 269
“In addition, induced pluripotent stem cell technology will likely allow us to make progress on in vitro modeling and patient-specific therap”
BackgroundCheung, A. Y. L., Horvath, L. M., Grafodatskaya, D., Pasceri, P., Weksberg, R., Hotta, A., Carrel, L., & Ellis, J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr093 · Cited by 271
“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.”
ResultA comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs
Choi, J., Lee, S., Mallard, W., Clement, K., Tagliazucchi, G. M., Lim, H., Choi, I. Y., Ferrari, F., Tsankov, A. M., Pop, R., et al. (2015) · Nature Biotechnology · doi:10.1038/nbt.3388 · Cited by 294
Self-citationInduced pluripotent stem cells in medicine and biology
Takahashi, K., & Yamanaka, S. (2013) · Development · doi:10.1242/dev.092551 · Cited by 277
“Disease-specific iPSC lines were first reported by two groups in 2008 (Dimos et al., 2008; Park et al., 2008), and in vitro reconstruction of the disease state was first successful in the case of spinal muscular atrophy (SMA) (Ebert et al., 2009; Ebert et al., 2012).”
BackgroundCharacterization of Human Huntington's Disease Cell Model from Induced Pluripotent Stem Cells
Zhang, N., An, M. C., Montoro, D. T., & Ellerby, L. (2010) · PLoS Currents · doi:10.1371/currents.rrn1193 · Cited by 261
Warlich, E., Kuehle, J., Cantz, T., Brugman, M. H., Maetzig, T., Galla, M., Filipczyk, A. A., Halle, S., Klump, H., Schöler, H. R., et al. (2011) · Molecular Therapy · doi:10.1038/mt.2010.314 · Cited by 259
Down syndrome and the complexity of genome dosage imbalance
Antonarakis, S. E. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.154 · Cited by 314
Translation of Human-Induced Pluripotent Stem Cells
Sayed, N., Liu, C., & Wu, J. C. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.01.083 · Cited by 290
“Since these reports, many have attempted to study human diseases using iPSCs from patients with neurodegenerative diseases (50,52), cardiovascular disorders (53–56), muscular dystrophies (57,58), and hematologic disorders (59,60), to name a few.”
Complete Genetic Correction of iPS Cells From Duchenne Muscular Dystrophy
Kazuki, Y., Hiratsuka, M., Takiguchi, M., Osaki, M., Kajitani, N., Hoshiya, H., Hiramatsu, K., Yoshino, T., Kazuki, K., Ishihara, C., et al. (2009) · Molecular Therapy · doi:10.1038/mt.2009.274 · Cited by 263
Cartilage tissue engineering using differentiated and purified induced pluripotent stem cells
Diekman, B. O., Christoforou, N., Willard, V. P., Sun, H., Sanchez‐Adams, J., Leong, K. W., & Guilak, F. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1210422109 · Cited by 265
“In addition to cellbased therapeutic applications, iPSC technology can also provide patient-specific cell and tissue models for pathophysiological and pharmacological studies (15, 16).”
BackgroundProgramming human pluripotent stem cells into white and brown adipocytes
Ahfeldt, T., Schinzel, R. T., Lee, Y., Hendrickson, D. G., Kaplan, A. N., Lum, D. H., Camahort, R., Xia, F., Shay, J., Rhee, E. P., et al. (2012) · Nature Cell Biology · doi:10.1038/ncb2411 · Cited by 256
Self-citationE-Cadherin-Mediated Cell–Cell Contact Is Critical for Induced Pluripotent Stem Cell Generation
Chen, T., Yuan, D., Wei, B. K., Jiang, J., Kang, J., Ling, K., Gu, Y., Li, J., Xiao, L., & Pei, G. (2010) · Stem Cells · doi:10.1002/stem.456 · Cited by 234
Mica, Y., Lee, G., Chambers, S. M., Tomishima, M. J., & Studer, L. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.03.025 · Cited by 263
“The derivation of PSCs from human fibroblasts (Park et al., 2008a; Takahashi et al., 2007; Yu et al., 2007) has been successfully applied to model human diseases (Dimos et al., 2008; Ebert et al., 2009; Park et al., 2008b), including disorders of the NC such as familial dysautonomia (Lee et al.,…”
MethodRevolutionizing medicine in the 21st century through systems approaches
Hood, L., Balling, R., & Auffray, C. (2012) · Biotechnology Journal · doi:10.1002/biot.201100306 · Cited by 244
“…stratify disease by virtual of different responses for each subtype of a disease that has its own unique combination of disease-perturbed networks [17, 18]. iPS cells derived from blood white cells and skin or cheek fibroblasts will be complemented by iPS cells derived from cells of the immune…”
BackgroundThe Use of Induced Pluripotent Stem Cells in Drug Development
Inoue, H., & Yamanaka, S. (2011) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2011.38 · Cited by 228
In vitro Models of Neurodegenerative Diseases
Slanzi, A., Iannoto, G., Rossi, B., Zenaro, E., & Constantin, G. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00328 · Cited by 315
Mitochondrial Rejuvenation After Induced Pluripotency
Suhr, S. T., Chang, E. A., Tjong, J., Alcasid, N. J., Perkins, G. A., Goissis, M. D., Ellisman, M. H., Perez, G. I., & Cibelli, J. B. (2010) · PLoS ONE · doi:10.1371/journal.pone.0014095 · Cited by 236
“validated’’ and may be derived directly from individuals with clinically confirmed illness[1,2].”
BackgroundKu, S., Soragni, E., Campau, E., Thomas, E. A., Altun, G., Laurent, L. C., Loring, J. F., Напиерала, М., & Gottesfeld, J. M. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.09.014 · Cited by 221
“Pluripotent marker primer sequences are previously described (Huangfu et al., 2008; Park et al., 2008).”
Modeling Retinal Degeneration Using Patient-Specific Induced Pluripotent Stem Cells
Jin, Z., Okamoto, S., Osakada, F., Homma, K., Assawachananont, J., Hirami, Y., Iwata, T., & Takahashi, M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017084 · Cited by 222
“Induced pluripotent stem (iPS) cells reprogrammed from somatic cells [3,4] have enabled us to easily generate patientderived terminally differentiated cells in vitro [5–7].”
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Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism
Liu, Y., Lopez‐Santiago, L. F., Yuan, Y., Jones, J. M., Zhang, H., O’Malley, H. A., Patiño, G. A., O’Brien, J. E., Rusconi, R., Gupta, A., et al. (2013) · Annals of Neurology · doi:10.1002/ana.23897 · Cited by 245
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Induced Pluripotent Stem Cells: Problems and Advantages when Applying them in Regenerative Medicine
Medvedev, S. P., Shevchenko, A. I., & Zakian, S. M. (2010) · Acta Naturae · doi:10.32607/20758251-2010-2-2-18-27 · Cited by 234
Reprogramming human fibroblasts to pluripotency using modified mRNA
Mandal, P., & Rossi, D. J. (2013) · Nature Protocols · doi:10.1038/nprot.2013.019 · Cited by 219
Advances in Reprogramming Somatic Cells to Induced Pluripotent Stem Cells
Patel, M. J., & Yang, S. (2010) · Stem Cell Reviews and Reports · doi:10.1007/s12015-010-9123-8 · Cited by 194
“iPS cells were successfully generated from patient isolated cells with a variety of genetic diseases including adenosine deaminase deficiency-related severe combined immunodeficiency, Shwachman-Bodian-Diamond syndrome, Gaucher disease typeII, duchenne and becker muscular dystrophy, Parkinson’s disease, hungtintons dis…”
BackgroundAnaniev, G. E., Williams, E. C., Li, H., & Chang, Q. (2011) · PLoS ONE · doi:10.1371/journal.pone.0025255 · Cited by 210
“Since then, patientspecific iPSCs have been successfully generated for several diseases [21,22,23,24], including Rett syndrome [25,26,27,28,29].”
BackgroundGeneration of integration-free neural progenitor cells from cells in human urine
Wang, L., Wang, L., Huang, W., Su, H., Xue, Y., Su, Z., Liao, B., Wang, H., Bao, X., Qin, D., et al. (2012) · Nature Methods · doi:10.1038/nmeth.2283 · Cited by 222
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Opportunities and challenges of pluripotent stem cell neurodegenerative disease models
Sandoe, J., & Eggan, K. C. (2013) · Nature Neuroscience · doi:10.1038/nn.3425 · Cited by 198
Application of induced pluripotent stem (iPS) cells in periodontal tissue regeneration
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Induced Pluripotent Stem Cells as a Disease Modeling and Drug Screening Platform
Ebert, A., Liang, P., & Wu, J. C. (2012) · Journal of Cardiovascular Pharmacology · doi:10.1097/fjc.0b013e318247f642 · Cited by 236
“In summary, a growing number of researchers have employed iPSCs for modeling a variety of diseases, including hematopoietic, hepatic,(73) neurological,(8,128,129) endothelial,(53) and cardiovascular.(45,60,61) Tissue-specific differentiation protocols have been developed to derive these specialized cell types from hum…”
BackgroundChiang, C.-H. J., Su, Y.-J., Wen, Z.-X., Yoritomo, N., Ross, C. A., Margolis, R., Song, H.-J., & Guo, L.-M. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.13 · Cited by 199
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Self-citationStem Cell Therapy for Vascular Regeneration: Adult, Embryonic, and Induced Pluripotent Stem Cells
Leeper, N. J., Hunter, A. L., & Cooke, J. P. (2010) · Circulation · doi:10.1161/circulationaha.109.881441 · Cited by 195
Disease-specific, neurosphere-derived cells as models for brain disorders
Matigian, N., Abrahamsen, G., Sutharsan, R., Cook, A. L., Vitale, A. M., Nouwens, A. S., Bellette, B., An, J., Anderson, M. J., Beckhouse, A. G., et al. (2010) · Disease Models & Mechanisms · doi:10.1242/dmm.005447 · Cited by 202
The therapeutic potential of stem cells
Watt, F. M., & Driskell, R. R. (2009) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2009.0149 · Cited by 207
Prospects of stem cell therapy for replacing dopamine neurons in Parkinson's disease
Lindvall, O., & Kokaia, Z. (2009) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2009.03.001 · Cited by 188
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
Warren, C. R., O’Sullivan, J. F., Friesen, M., Becker, C. E., Zhang, X., Liu, P., Wakabayashi, Y., Morningstar, J. E., Shi, X., Choi, J., et al. (2017) · Cell stem cell · doi:10.1016/j.stem.2017.01.010 · Cited by 191
Self-citationReprogramming Cellular Identity for Regenerative Medicine
Cherry, A. B. C., & Daley, G. Q. (2012) · Cell · doi:10.1016/j.cell.2012.02.031 · Cited by 193
Self-citationReprogramming to pluripotency: stepwise resetting of the epigenetic landscape
Papp, B., & Plath, K. (2011) · Cell Research · doi:10.1038/cr.2011.28 · Cited by 194
DENTAL PULP TISSUE ENGINEERING
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“Using different transcription factors (Oct4, Sox2, Klf4, Myc), adult human cells were reprogrammed to generate embryonic stem-like cells (49).”
MethodPolyglutamine (PolyQ) Diseases: Genetics to Treatments
Fan, H.-C., Ho, L.-I., Chi, C.-S., Chen, S., Peng, G.-S., Chan, T.-M., Lin, S., & Harn, H.-J. (2014) · Cell Transplantation · doi:10.3727/096368914x678454 · Cited by 204
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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 195
“Aside from proof of concept experiments showing that it is possible to reprogram cells from AD patients, the field has been surprisingly slow in the analysis of AD iPSC models, which might reflect the challenges of modeling late-onset diseases (6).”
BackgroundCamnasio, S., Carri, A. D., Lombardo, A., Grad, I., Mariotti, C., Castucci, A., Rozell, B., Riso, P. L., Castiglioni, V., Zuccato, C., et al. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.12.042 · Cited by 175
APP Metabolism Regulates Tau Proteostasis in Human Cerebral Cortex Neurons.
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“Healthy control cell lines were NDC (Israel et al., 2012), NAS6 (Devine et al., 2011), and the H9 ES (WiCell Research Institute); additional disease lines were APP duplication (Israel et al., 2012) and Ts21 iPSCs (Park et al., 2008).”
Disease characterization using LQTS-specific induced pluripotent stem cells
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
Human stem cells and drug screening: opportunities and challenges
Ebert, A. D., & Svendsen, C. N. (2010) · Nature Reviews Drug Discovery · doi:10.1038/nrd3000 · Cited by 172
“Drug screening with patient-derived iPSCs Perhaps the most important and most exciting potential application of human iPSC technology for drug discovery could result from the recent demonstration that these cells can be generated from adult patients with specific disease”
BackgroundAgarwal, P., Zhao, S., Bielecki, P. A., Rao, W., Choi, J. K., Zhao, Y., Yu, J., Zhang, W., & He, X. (2013) · Lab on a Chip · doi:10.1039/c3lc50678a · Cited by 196
Huntington's disease: The current state of research with peripheral tissues
Sassone, J., Colciago, C., Cislaghi, G., Silani, V., & Ciammola, A. (2009) · Experimental Neurology · doi:10.1016/j.expneurol.2009.05.012 · Cited by 175
Streckfuß‐Bömeke, K., Wolf, F., Azizian, A., Stauske, M., Tiburcy, M., Wagner, S., Hübscher, D., Dressel, R., Chen, S., Jende, J., et al. (2012) · European Heart Journal · doi:10.1093/eurheartj/ehs203 · Cited by 186
“The use of human dermal fibroblasts and foreskin or hair keratinocytes for generating hiPSCs shows great promise in clinical application because they are the most accessible cell sources.(12,14,15) However, many aspects before the application of hiPSCs in disease modelling and in regenerative medicine have to be addre…”
BackgroundYoshida, Y., & Yamanaka, S. (2010) · Circulation · doi:10.1161/circulationaha.109.881433 · Cited by 176
Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington's disease.
Gaughwin, P. M., Ciesla, M., Lahiri, N., Tabrizi, S. J., Brundin, P., & Björkqvist, M. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr111 · Cited by 145
Effects of neuroinflammation on the regenerative capacity of brain stem cells
Russo, I., Barlati, S., & Bosetti, F. (2010) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2010.07168.x · Cited by 155
The bioethics of stem cell research and therapy
Hyun, I. (2010) · Journal of Clinical Investigation · doi:10.1172/jci40435 · Cited by 213
Hibaoui, Y., Grad, I., Letourneau, A., Sailani, M. R., Dahoun, S., Santoni, F. A., Gimelli, S., Guipponi, M., Pelte, M. F., Béna, F., et al. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201302848 · Cited by 170
“…in generating disease-specific induced pluripotent stem cells (iPSCs) from a variety of neurodevelopmental and neuro-degenerative disorders (Park et al , 2008; Soldner et al , 2009; Brennand et al , 2011; Israel et al , 2012), providing excellent in vitro models for the pathophysiology and…”
Goudenege, S., LeBel, C. P., Huot, N. B., Dufour, C., Fujii, I., Gekas, J., Rousseau, J., & Tremblay, J. P. (2012) · Molecular Therapy · doi:10.1038/mt.2012.188 · Cited by 181
Liu, Q., Spusta, S. C., Mi, R., Lassiter, R. N. T., Stark, M. R., Höke, A., Rao, M. S., & Zeng, X. (2012) · Stem Cells Translational Medicine · doi:10.5966/sctm.2011-0042 · Cited by 177
Chemical Control of Stem Cell Fate and Developmental Potential
Lyssiotis, C. A., Lairson, L. L., Boitano, A. E., Wurdak, H., Zhu, S., & Schultz, P. G. (2010) · Angewandte Chemie International Edition · doi:10.1002/anie.201004284 · Cited by 143
Wang, G., Guo, X., Hong, W., Liu, Q., Wei, T., Lu, C., Gao, L., Ye, D., Zhou, Y., Chen, J., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1212769110 · Cited by 149
Generation of skeletal muscle stem/progenitor cells from murine induced pluripotent stem cells
Mizuno, Y., Chang, H. C., Umeda, K., Niwa, A., Iwasa, T., Awaya, T., Fukada, S., Yamamoto, H., Yamanaka, S., Nakahata, T., et al. (2010) · The FASEB Journal · doi:10.1096/fj.09-137174 · Cited by 169
“Furthermore, the iPS cell technology enables us to generate individualized stem cells, which is expected to contribute to patient-oriented disease studies, drug screenings, toxicity tests, and transplantation therapies (22, 23).”
BackgroundiPSC-derived forebrain neurons from FXS individuals show defects in initial neurite outgrowth
Doers, M. E., Musser, M. T., Nichol, R., Berndt, E. R., Baker, M., Gomez, T. M., Zhang, S.-C., Abbeduto, L., & Bhattacharyya, A. (2014) · Stem Cells and Development · doi:10.1089/scd.2014.0030 · Cited by 165
“iPSC technology has enabled the generation of pluripotent stem cell lines from patients with disease-causing mutations to model diseases [30,31,50].”
BackgroundPresent state and future perspectives of using pluripotent stem cells in toxicology research
Wobus, A. M., & Löser, P. (2011) · Archives of Toxicology · doi:10.1007/s00204-010-0641-6 · Cited by 161
“Specifically, human ESCs (hESCs) established from surplus embryos after in vitro fertilization are available with more than thousand individual cell lines (Löser et al. 2010).”
BackgroundToward clinical therapies using hematopoietic cells derived from human pluripotent stem cells
Kaufman, D. S. (2009) · Blood · doi:10.1182/blood-2009-03-191304 · Cited by 153
Present and future challenges of induced pluripotent stem cells
Ohnuki, M., & Takahashi, K. (2015) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2014.0367 · Cited by 182
Samuel, R., Daheron, L. M., Liao, S., Vardam, T. D., Kamoun, W. S., Batista, A., Buecker, C., Schäfer, R., Han, X., Au, P., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1310675110 · Cited by 168
“Disease-specific hiPS cells may serve as an excellent source for modeling human diseases (4, 12, 13).”
BackgroundAnguera, M. C., Sadreyev, R. I., Zhang, Z., Szántó, A., Payer, B., Sheridan, S. D., Kwok, S., Haggarty, S. J., Sur, M., Alvarez, J., et al. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.03.008 · Cited by 166
“, 2011) and compared male hiPSC and female hESC profiles to our female hiPSCs, including a lowoxygen line (hiPS-2 cIII LO) and two disease-model hiPSC lines (12D-1, 6C-1) created elsewhere but passaged in our laboratory (Park et al., 2008a).”
InfluentialConstructing and Deconstructing Stem Cell Models of Neurological Disease
Han, S. S. W., Williams, L. A., & Eggan, K. C. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.003 · Cited by 159
“…adult-onset, neurodegenerative disease such as AD, PD, and HD, reports of spontaneous phenotypic differences in differentiated cells from these disease-specific iPS lines has yet to emerge (Nguyen et al., 2011; Park et al., 2008a; Seibler et al., 2011; Soldner et al., 2009; Zhang et al., 2010).”
InfluentialHung, C. O. Y., & Livesey, F. J. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.11.095 · Cited by 159
Colacurcio, D. J., Pensalfini, A., Jiang, Y., & Nixon, R. A. (2018) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2017.10.001 · Cited by 167
“In addition, iPSC cells derived from fibroblast of multiple DS patients [140,196], including fetal fibroblasts of monozygotic twins [66], have been differentiated into neurons and astroglia [27] for further functional studies.”
BackgroundNeurodevelopmental disorders involving genomic imprinting at human chromosome 15q11–q13
Chamberlain, S. J., & Lalande, M. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.03.011 · Cited by 101
Induced Pluripotent Stem Cells from Individuals with Recessive Dystrophic Epidermolysis Bullosa
Tolar, J., Xia, L., Riddle, M. J., Lees, C. J., Eide, C. R., McElmurry, R. T., Titeux, M., Osborn, M. J., Lund, T. C., Hovnanian, A., et al. (2011) · Journal of Investigative Dermatology · doi:10.1038/jid.2010.346 · Cited by 155
“Patient-specific stem cells, such as the recently identified induced pluripotent stem (iPS) cells (Takahashi and Yamanaka, 2006a; Yu et al., 2007; Park et al., 2008b), present an opportunity to use the progeny of autologous See related commentary on pg 812ORIGINAL ARTICLE 848 Journal of…”
BackgroundInfluentialMaclean, G., Menne, T., Guo, G., Sanchez, D. J., Park, I.-H., Daley, G., & Orkin, S. (2011) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1215468109 · Cited by 153
“Accordingly, we have analyzed independently derived disomic and trisomic hES (CSES2 and CSES13) and iPS (DS2-iPS1, DS2-iPS10, DS1-iPS4, MRC5-IPS7) cell lines (14, 15), as well as disomic and trisomic iPS subclones that are isogenic except for the presence of an additional chromosome 21 (detailed below).”
BackgroundMethodSelf-citationPluripotent stem cells in neurodegenerative and neurodevelopmental diseases
Marchetto, M. C. N., Winner, B., & Gage, F. H. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq159 · Cited by 152
“Huntington’s disease Not shown (3) Rett syndrome”
BackgroundGenome editing of human pluripotent stem cells to generate human cellular disease models
Musunuru, K. (2013) · Disease Models & Mechanisms · doi:10.1242/dmm.012054 · Cited by 148
“Owing to recent advances, iPSCs can now be derived from a skin biopsy (Dimos et al., 2008; Park et al., 2008b) or blood sample (Seki et al., 2010; Loh et al., 2010; Staerk et al., 2010) from virtually any given patient, making it possible to derive, expand and differentiate somatic cells that are…”
BackgroundKumano, K., Arai, S., Hosoi, M., Taoka, K., Takayama, N., Otsu, M., Nagae, G., Ueda, K., Nakazaki, K., Kamikubo, Y., et al. (2012) · Blood · doi:10.1182/blood-2011-07-367441 · Cited by 160
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
Ebrahimi‐Fakhari, D., Saffari, A., Wahlster, L., Lu, J., Byrne, S., Hoffmann, G. F., Jungbluth, H., & Şahin, M. (2015) · Brain · doi:10.1093/brain/awv371 · Cited by 165
Cayo, M. A., Cai, J., DeLaForest, A., Noto, F. K., Nagaoka, M., Clark, B. S., Collery, R. F., Si‐Tayeb, K., & Duncan, S. A. (2012) · Hepatology · doi:10.1002/hep.25871 · Cited by 153
Induction of Pluripotent Stem Cells from Human Third Molar Mesenchymal Stromal Cells*
Oda, Y., Yoshimura, Y., Ohnishi, H., Tadokoro, M., Katsube, Y., Sasao, M., Kubo, Y., Hattori, K., Saito, S., Horimoto, K., et al. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.055889 · Cited by 139
Functional Vascular Endothelium Derived from Human Induced Pluripotent Stem Cells
Adams, W. J., Zhang, Y., Cloutier, J. K., Kuchimanchi, P., Newton, G. A., Sehrawat, S., Aird, W. C., Mayadas, T. N., Luscinskas, F. W., & García‐Cardeña, G. (2013) · Stem Cell Reports · doi:10.1016/j.stemcr.2013.06.007 · Cited by 166
Investigating synapse formation and function using human pluripotent stem cell-derived neurons
Kim, J., O’Sullivan, M. L., Sanchez, C. A., Hwang, M., Israel, M. A., Brennand, K., Deerinck, T. J., Goldstein, L. S. B., Gage, F. H., Ellisman, M. H., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1007753108 · Cited by 144
“Discussion With the advent of novel reprogramming technologies, it is now possible to generate hiPS cells from individual patients carrying a disease mutation in their genome (27, 37).”
BackgroundMethodDrew, L., Crabtree, G. W., Markx, S., Stark, K. L., Chaverneff, F., Xu, B., Mukai, J., Fénelon, K., Hsu, P.-K., Gogos, J. A., et al. (2010) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2010.09.007 · Cited by 142
“In recent years a number of studies have shown successful reprogramming of somatic cells from patients affected by various nervous system diseases, including Parkinson’s disease (PD), Huntington’s disease, amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and Rett syndrome (Park et al., 2008; Dimos et…”
BackgroundStevanović, M. J., Drakulić, D., Lazic, A., Ninković, D. S., Schwirtlich, M., & Mojsin, M. M. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.654031 · Cited by 168
Huang, H., Chen, P.-H., Hwu, W., Chuang, C.-Y., Chien, Y., Stone, L., Chien, C. L., Li, L.-T., Chiang, S.-C., Chen, H., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr424 · Cited by 140
Applications of synthetic biology in medical and pharmaceutical fields
Yan, X., Liu, X., Zhao, C., & Chen, G. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01440-5 · Cited by 191
“The iPSC cell lines for Down’s syndrome and polycystic kidney disease are established.(77,78) An project termed StemBANCC calls for collections of iPSC cell lines for drug screening.”
BackgroundBooij, T. H., Price, L., & Danen, E. H. J. (2019) · SLAS DISCOVERY · doi:10.1177/2472555219830087 · Cited by 180
“As a result, iPSC-derived tissues have been used to model a variety of different diseases, 56 such as cardiovascular, neurological, 57 and hepatic 58 disorders.”
MethodPrimary Skin Fibroblasts as a Model of Parkinson's Disease
Auburger, G. W. J., Klinkenberg, M., Drost, J., Marcus, K., Morales-Gordo, B., Kunz, W. S., Brandt, U., Broccoli, V., Reichmann, H., Gispert, S., et al. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8245-1 · Cited by 146
Földes, G., Mioulane, M., Wright, J. S., Liu, A., Novák, P., Merkely, B. P., Gorelik, J., Schneider, M. D., Ali, N. N., & Harding, S. E. (2010) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2010.10.029 · Cited by 128
“This potential has been enhanced by the realization that both hESC and their close cousins, the induced pluripotent stem cells (iPSC), can be obtained with disease-specific genotypes [1].”
Background
Metadata
- Authors
- Park, I.-H., Arora, N., Huo, H., Maherali, N., Ahfeldt, T., Shimamura, A., Lensch, M. W., Cowan, C., Hochedlinger, K., & Daley, G. Q.
- Affiliations
- Boston Children's Hospital (US)
- Harvard University (US)
- University of Washington (US)
- Brigham and Women's Hospital (US)
- Corresponding author
- Daley, George Q.
- ORCID
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2008-09
- Volume
- 134
- Issue
- 5
- Pages
- 877-886
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC2633781
- OpenAlex
- W2157645703
- Cited by
- 2,196
- References
- 34
- Citations by year
- 2026: 20 · 2025: 32 · 2024: 38 · 2023: 51 · 2022: 62 · 2021: 75 · 2020: 89 · 2019: 73 · 2018: 71 · 2017: 108 · 2016: 125 · 2015: 144 · 2014: 139 · 2013: 204 · 2012: 272
- FWCI
- 95.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (DP1OD000256)
- National Heart, Lung, and Blood Institute (R01HL079582)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK059279)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Mesenchymal stem cell research
- Keywords
- induced pluripotent stem cells, genetic disorders, Mendelian inheritance, multifactorial inheritance, ADA-SCID, Duchenne muscular dystrophy, Becker muscular dystrophy, Parkinson's disease, Huntington's disease, Down syndrome, Lesch-Nyhan syndrome, in vitro disease model, drug development
- MeSH terms
- Bone Marrow Cells, Cell Line, Fibroblasts, Humans, Karyotyping, Mutation, Genetic Diseases, Inborn, Pluripotent Stem Cells, Mesenchymal Stem Cells
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