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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
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/s0093-3619(08)70915-8 · Cited by 19,664 · cited 2×
“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).”
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
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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).”
Reprogramming of human somatic cells to pluripotency with defined factors
Park, I.-H., Zhao, R., West, J. A., Yabuuchi, A., Huo, H., Ince, T. A., Lerou, P. H., Lensch, M. W., & Daley, G. Q. (2008) · Nature · doi:10.1038/nature06534 · Cited by 2,436 · cited 12×
“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).”
InfluentialSelf-citationSite-directed mutagenesis by gene targeting in mouse embryo-derived stem cells
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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).”
Generation of human induced pluripotent stem cells from dermal fibroblasts
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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).”
Sequential Expression of Pluripotency Markers during Direct Reprogramming of Mouse Somatic Cells
Brambrink, T., Foreman, R. K., Welstead, G. G., Lengner, C. J., Wernig, M., Suh, H., & Jaenisch, R. (2008) · Cell stem cell · doi:10.1016/j.stem.2008.01.004 · Cited by 839 · cited 2×
“…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.”
Defining molecular cornerstones during fibroblast to iPS cell reprogramming in mouse
Stadtfeld, M., Maherali, N., Breault, D. T., & Hochedlinger, K. (2008) · Cell stem cell · doi:10.1016/j.stem.2008.02.001 · Cited by 823 · cited 4×
“…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.”
MethodInfluentialSelf-citationNon–cell autonomous effect of glia on motor neurons in an embryonic stem cell–based ALS model
Di Giorgio, F. P., Carrasco, M. A., Siao, M. C., Maniatis, T., & Eggan, K. (2007) · Nature Neuroscience · doi:10.1038/nn1885 · Cited by 799
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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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Items 501–600 of 1,010
Mouse ES and iPS cells can form similar definitive endoderm despite differences in imprinted genes.
Christodoulou, C., Longmire, T. A., Shen, S. S., Bourdon, A., Sommer, C., Gadue, P., Spira, A., Gouon-Evans, V., Murphy, G., Mostoslavsky, G., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci43853 · Cited by 56
Kang, N.-Y., Yun, S.-W., Ha, H.-H., Park, S.-J., & Chang, Y.-T. (2011) · Nature Protocols · doi:10.1038/nprot.2011.350 · Cited by 56
“In particular, iPSCs generated from human somatic cells can be used for autologous transplantation and drug development and to test for specific disease”
BackgroundNeutrophil differentiation from human‐induced pluripotent stem cells
Morishima, T., Watanabe, K., Niwa, A., Fujino, H., Matsubara, H., Adachi, S., Suemori, H., Nakahata, T., & Heike, T. (2010) · Journal of Cellular Physiology · doi:10.1002/jcp.22456 · Cited by 57
“…are reprogrammed somatic cells with embryonic stem (ES) cell-like characteristics generated by the introduction of combinations of specific transcription factors (Takahashi and Yamanaka, 2006; Meissner et al., 2007; Okita et al., 2007; Takahashi et al., 2007; Yu et al., 2007; Park et al., 2008b).”
BackgroundLee, H., Park, J., Forget, B., & Gaines, P. C. W. (2009) · Regenerative medicine · doi:10.2217/rme.09.46 · Cited by 56
Protein intrinsic disorder and induced pluripotent stem cells
Xue, B., Oldfield, C. J., Van, Y.-Y. J., Dunker, A. K., & Uversky, V. N. (2011) · Molecular BioSystems · doi:10.1039/c1mb05163f · Cited by 60
Alzheimer's disease in a dish: promises and challenges of human stem cell models
Young, J. E., & Goldstein, L. S. B. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds319 · Cited by 57
Ono, M., Hamada, Y., Horiuchi, Y., Matsuo‐Takasaki, M., Imoto, Y., Satomi, K., Arinami, T., Hasegawa, M., Fujioka, T., Nakamura, Y., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042855 · Cited by 55
“iPSCs can be generated from subjects with various genetic diseases [13,14].”
BackgroundPreclinical Models to Investigate Retinal Ischemia: Advances and Drawbacks
Minhas, G., Morishita, R., & Anand, A. (2012) · Front. Neur. · doi:10.3389/fneur.2012.00075 · Cited by 55
“This method results in damage due to free-radicals.”
MethodTargets and delivery methods for therapeutic angiogenesis in peripheral artery disease
Ouma, G. O., Jonas, R. A., Usman, M. H. U., & Mohler, E. R. (2012) · Vascular Medicine · doi:10.1177/1358863x12438270 · Cited by 63
Qiu, X.-D., Yang, J., Liu, T.-J., Jiang, Y., Le, Q., & Lu, Y. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032612 · Cited by 55
“Pluripotent stem cells can be generated by reprogramming patient somatic cells, and patienttailored iPS cells will be valuable for regenerative medicine [6,22,23].”
BackgroundInduced pluripotent stem cell technology for the study of human disease
Lee, G., & Studer, L. (2009) · Nature Methods · doi:10.1038/nmeth.f.283 · Cited by 52
Urine-Derived Stem Cells: The Present and the Future
Ji, X., Wang, M., Chen, F., & Zhou, J. (2017) · Stem Cells International · doi:10.1155/2017/4378947 · Cited by 58
Han, B., Nia, H. T., Wang, C., Chandrasekaran, P., Li, Q., Chery, D. R., Li, H., Grodzinsky, A. J., & Han, L. (2017) · ACS Biomaterials Science & Engineering · doi:10.1021/acsbiomaterials.7b00307 · Cited by 58
NF1 loss induces senescence during human melanocyte differentiation in an iPSC ‐based model
Larribère, L., Wu, H., Novak, D., Galach, M., Bernhardt, M., Orouji, E., Weina, K., Knappe, N., Sachpekidis, C., Umansky, L., et al. (2015) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12369 · Cited by 57
“NF1-mutated iPSCs are pluripotent and exhibit activated RAS signaling The generation of iPSCs from human fibroblasts has already been used to successfully model neural crestrelated disorders (Park et al., 2008).”
MethodTranslating Induced Pluripotent Stem Cells from Bench to Bedside: Application to Retinal Diseases
Barnea-Cramer, A. O., & MacLaren, R. E. (2013) · Current Gene Therapy · doi:10.2174/1566523211313020008 · Cited by 50
“iPSc have been successfully generated from patients in a number of diseases, including Parkinson’s disease [65], sickle cell anemia [66], amyotrophic lateral sclerosis (ALS) [67], catecholaminergic polymorphic ventricular tachycardia (CPVT) [68], muscular dystrophy and Huntingdon’s disease [69].”
BackgroundTherapeutic Application of Stem Cell Technology toward the Treatment of Parkinson’s Disease
Nishimura, K., & TAKAHASHI, J. C. (2013) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.b12-00929 · Cited by 50
Mou, X., Wu, Y., Cao, H., Meng, Q., Wang, Q., Sun, C., Hu, S., Ma, Y., & Zhang, H. (2012) · Stem Cell Research & Therapy · doi:10.1186/scrt105 · Cited by 54
Chistiakov, D. A. (2010) · Journal of Biomedical Science · doi:10.1186/1423-0127-17-92 · Cited by 59
“The iPS cells present a key advantage over true ESCs since they do not require an embryo to be sacrificed and ultimately will allow the autologous transplantation of induced SCs to repair damaged tissues [ 40 ].”
BackgroundPonnusamy, M. P., Deb, S., Dey, P., Chakraborty, S., Rachagani, S., Senapati, S., & Batra, S. K. (2009) · Stem Cells · doi:10.1002/stem.237 · Cited by 53
Ooi, L., Sidhu, K., Poljak, A., Sutherland, G. T., O’Connor, M. D., Sachdev, P. S., & Münch, G. W. (2012) · Journal of Neural Transmission · doi:10.1007/s00702-012-0839-2 · Cited by 49
iPSC technology-Powerful hand for disease modeling and therapeutic screen
Kim, C. (2015) · BMB Reports · doi:10.5483/bmbrep.2015.48.5.100 · Cited by 63
“and novel therapy options (5) (Table 1).”
BackgroundMartins, A. M., Vunjak‐Novakovic, G., & Reis, R. L. (2014) · Stem Cell Reviews and Reports · doi:10.1007/s12015-013-9487-7 · Cited by 60
“One of the first such reports described the generation of iPS cells from patients with several genetic diseases with complex inheritance patterns [139].”
BackgroundChen, I., Fukuda, K., Fusaki, N., Iida, A., Hasegawa, M., Lichtler, A., & Reichenberger, E. (2013) · Cellular Reprogramming · doi:10.1089/cell.2013.0037 · Cited by 53
“…amyotrophic lateral sclerosis, Parkinson’s disease, and glioblastoma; however, no iPSCs derived from patients with rare genetic bone diseases have been published as of yet (Chen et al., 2013; Dimos et al., 2008; Kudva et al., 2012; Maehr et al., 2009; Park et al., 2008a; Teo et al., 2013).”
BackgroundDerivation of Smooth Muscle Cells with Neural Crest Origin from Human Induced Pluripotent Stem Cells
Wang, A.-J., Tang, Z., Li, X., Jiang, Y., Tsou, D., & Li, S. (2011) · Cells Tissues Organs · doi:10.1159/000331412 · Cited by 53
“Induced pluripotent stem cells (iPSCs) generated from somatic cells make it possible to derive a variety of autologous cells for therapies [Takahashi et al., 2007; Park et al., 2008a; Soldner et al., 2009; Yamanaka, 2009], including NC stem cells (NCSCs) and vascular cells.”
BackgroundMethodCell-based therapies for Parkinson’s disease
Dyson, S. C., & Barker, R. A. (2011) · Expert Review of Neurotherapeutics · doi:10.1586/ern.11.33 · Cited by 42
Genetic and Epigenetic Instability of Human Pluripotent Stem Cells
Chung, T., Thakar, N. Y., & Wolvetang, E. (2011) · The Open Stem Cell Journal · doi:10.2174/1876893801103010052 · Cited by 53
“Indeed, it is likely that most of the hESC and iPSC lines in use today carry genetic and epigenetic artifacts of accommodation to tissue culture [4] and that the type and number of abnormalities varies from laboratory to laboratory due to differences in culture methods.”
BackgroundThe Current Status of Engineering Myocardial Tissue
Sui, R., Liao, X., Zhou, X., & Tan, Q. (2010) · Stem Cell Reviews and Reports · doi:10.1007/s12015-010-9131-8 · Cited by 48
“Park et al [ 44 , 45] first described the generation of iPSCs from patients with genetic diseases by retroviral transduction of reprogramming factors.”
BackgroundDerivation of 30 human embryonic stem cell lines—improving the quality
Ström, S., Holm, F., Bergström, R., Strömberg, A., & Hovatta, O. (2010) · In vitro Cellular & Developmental Biology-Animal · doi:10.1007/s11626-010-9308-0 · Cited by 53
Onorati, M., Camnasio, S., Binetti, M., Jung, C. B., Moretti, A., & Cattaneo, E. F. (2009) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2009.12.002 · Cited by 53
“Remarkably, iPS cells were also generated from human fetal, neonatal, and adult skin fibroblasts (Nakagawa et al., 2008; Park et al., 2008; Takahashi et al., 2007; Yu et al., 2007) and keratinocytes (Aasen et al.”
BackgroundHuman embryonic stem cells and genomic instability.
Lefort, N., Perrier, A., Laâbi, Y., Varela, C., & Peschanski, M. (2009) · Regenerative medicine · doi:10.2217/rme.09.63 · Cited by 53
Motta, B. M., Pramstaller, P. P., Hicks, A. A., & Rossini, A. (2017) · Stem Cells International · doi:10.1155/2017/8960236 · Cited by 64
Noormohammadi, A., Calculli, G., Gutiérrez-García, R., Khodakarami, A., Koyuncu, S., & Vı́lchez, D. (2017) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-017-2602-1 · Cited by 56
Cardiovascular Disease Modeling Using Patient-Specific Induced Pluripotent Stem Cells
Tanaka, A., Yuasa, S., Node, K., & Fukuda, K. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms160818894 · Cited by 52
Induced pluripotent stem cells: Mechanisms, achievements and perspectives in farm animals
Kumar, D. (2015) · World Journal of Stem Cells · doi:10.4252/wjsc.v7.i2.315 · Cited by 57
Human Finger‐Prick Induced Pluripotent Stem Cells Facilitate the Development of Stem Cell Banking
Tan, H.-K., Toh, C. D., Ma, D.-R., Yang, B.-X., Liu, T., Lu, J., Wong, C.-W., Tan, T.-K., Li, H., Syn, C., et al. (2014) · Stem Cells Translational Medicine · doi:10.5966/sctm.2013-0195 · Cited by 52
Hargus, G., Ehrlich, M., Hallmann, A.-L., & Kuhlmann, T. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1222-6 · Cited by 54
“So far, stem cell models of the acute (type 2) and the chronic (type 3) neuronopathic form of GD have been published [128, 181] (Table S2).”
BackgroundInfluentialDage, J., Colvin, E. M., Fouillet, A., Langron, E., Roell, W., Li, J.-L., Mathur, S., Mogg, A., Schmitt, M. G., Felder, C., et al. (2014) · Psychopharmacology · doi:10.1007/s00213-013-3384-2 · Cited by 52
Induced pluripotent stem cells as a source of hepatocytes
Sauer, V., Roy-Chowdhury, N., Guha, C., & Roy-Chowdhury, J. (2014) · Current Pathobiology Reports · doi:10.1007/s40139-013-0039-2 · Cited by 52
Nihei, Y., Ito, D., Okada, Y., Akamatsu, W., Yagi, T., Yoshizaki, T., Okano, H., & Suzuki, N. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.408211 · Cited by 52
“Generation of polyQ disease-specific 151 iPSCs from patients with Huntington’s disease 152 and spinocerebellar ataxia type 3 (SCA3) has also 153 been reported (17, 27-29).”
BackgroundMethodInduced pluripotent stem cells: A new tool to confront the challenge of neuropsychiatric disorders
Vaccarino, F. M., Stevens, H. E., Kocabas, A. M., Palejev, D., Szekely, A. M., Grigorenko, E. L., & Weissman, S. M. (2011) · Neuropharmacology · doi:10.1016/j.neuropharm.2011.02.021 · Cited by 49
“Patient specific iPSCs are in the first stages of investigation for Down syndrome, Gaucher disease type 3, Huntington disease (Park et al., 2008) and epilepsy, with investigations of the latter particularly focusing on patients with known sodium channel mutations such as SCNA1, the most commonly…”
BackgroundHigh-content screening of small compounds on human embryonic stem cells.
Barbaric, I., Gokhale, P., & Andrews, P. (2010) · Biochemical Society Transactions · doi:10.1042/bst0381046 · Cited by 52
What can pluripotent stem cells teach us about neurodegenerative diseases?
Wichterle, H., & Przedborski, S. (2010) · Nature Neuroscience · doi:10.1038/nn.2577 · Cited by 42
“, as well as from those with other common neurological disorders such as sporadic Parkinson's diseas”
BackgroundHwang, D., Kim, D.-S., & Kim, D.-W. (2009) · Journal of Cellular Biochemistry · doi:10.1002/jcb.22411 · Cited by 52
“In this case, the hiPSCs were generated from dermal fibroblasts of 57-year-old male suffering from multifactorial PD [Park et al., 2008].”
BackgroundiPSCs: On the Road to Reprogramming Aging
Soria‐Valles, C., & López-Otı́n, C. (2016) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2016.05.010 · Cited by 49
“PD Sporadic Fibroblasts Embryoid bodies and teratomas [51,52]”
BackgroundWen, J.-Y., Wei, C., Shah, K., Wong, J., Wang, C., & Chen, H.-S. V. (2015) · Circulation Journal · doi:10.1253/circj.cj-15-0363 · Cited by 59
Pandian, G., Shinohara, K., Ohtsuki, A., Nakano, Y., Masafumi, M., Bando, T., Nagase, H., Yamada, Y., Watanabe, A., Terada, N., et al. (2011) · ChemBioChem · doi:10.1002/cbic.201100597 · Cited by 51
Introduction to Induced Pluripotent Stem Cells: Advancing the Potential for Personalized Medicine
Ebben, J. D., Zorniak, M., Clark, P. A., & Kuo, J. S. (2011) · World Neurosurgery · doi:10.1016/j.wneu.2010.12.055 · Cited by 51
Xiong, N., Cao, X.-B., Zhang, Z.-T., Huang, J.-S., Chen, C.-N., Zhang, Z.-W., Jia, M., Xiong, J., Liang, Z.-H., Sun, S.-G., et al. (2010) · Biology of Blood and Marrow Transplantation · doi:10.1016/j.bbmt.2010.06.004 · Cited by 51
“which could be derived from patients’ own cells, might be associated with increased susceptibility to the degenerative process of PD [16], as increased a-synuclein expression was recently reported in Parkinson patient fibroblasts [17].”
BackgroundCell therapy strategies and improvements for muscular dystrophy
Quattrocelli, M., Cassano, M., Crippa, S., Perini, I., & Sampaolesi, M. (2010) · Cell Death and Differentiation · doi:10.1038/cdd.2009.160 · Cited by 51
Mice Cloned from Induced Pluripotent Stem Cells (iPSCs)1
Kou, Z.-H., Kang, L., Yuan, Y., Tao, Y., Zhang, Y., Wu, T., He, J., Wang, J., Liu, Z.-H., & Gao, S.-R. (2010) · Biology of Reproduction · doi:10.1095/biolreprod.110.084731 · Cited by 51
“Moreover, patient-specific iPSCs have been successfully derived and are proposed as a potential application in the treatment of various diseases or as an in vitro system to screen appropriate drug targets for specific individuals [8-11].”
BackgroundHuang, J., Chen, T.-T., Liu, X.-S., Jiang, J., Li, J.-S., Li, D., Liu, X., Li, W., Kang, J.-H., & Pei, G. (2009) · Cell Research · doi:10.1038/cr.2009.106 · Cited by 51
Afzal, M., Reiter, M., Gastonguay, C., McGivern, J., Guan, X., Ge, Z.-D., Mack, D. L., Childers, M., Ebert, A., & Strande, J. (2016) · Journal of Cardiovascular Pharmacology and Therapeutics · doi:10.1177/1074248416636477 · Cited by 50
“The Dys1 line contains an out-of-frame dystrophin gene deletion of exons 3 to 6 (Systems Biosciences, Mountain View, California), and the Dys2 line contains an in-frame deletion of exons 45 to 53 (Coriell Institute, Camden, New Jersey).(19) The N-iPSC line was a generous gift from Stephen Duncan.”
BackgroundMethodSun, Y., Florer, J. B., Mayhew, C. N., Jia, Z., Zhao, Z., Xu, K., Ran, H., Liou, B., Zhang, W., Setchell, K. D. R., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0118771 · Cited by 57
“iPSCs derived from GD patient fibroblasts have been used to obtain cultures of neurons and functional macrophages [19,30,31,33,53].”
MethodAberrant α-Adrenergic Hypertrophic Response in Cardiomyocytes from Human Induced Pluripotent Cells
Foldes, G., Matsa, E., Kriston-Vizi, J., Leja, T., Amisten, S., Kolker, L., Kodagoda, T., Dolatshad, N., Mioulane, M., Vauchez, K., et al. (2014) · Stem Cell Reports · doi:10.1016/j.stemcr.2014.09.002 · Cited by 50
“…of stem cell-derived cardiomyocytes for disease modeling has been enhanced by the realization that cardiomyocytes from human embryonic stem cells (hESC-CMs) and induced pluripotent stem cells (hiPSCCMs) can be obtained also with disease-specific genotypes and phenotypes (Park et al., 2008).”
BackgroundPluripotent stem cells and gene therapy
Šimara, P., Motl, J. A., & Kaufman, D. S. (2013) · Translational research · doi:10.1016/j.trsl.2013.01.001 · Cited by 49
Multiple phenotypes in Huntington disease mouse neural stem cells
Ritch, J. J., Valencia, A., Alexander, J. S., Sapp, E., Gatune, L. W., Sangrey, G. R., Sinha, S. K., Scherber, C. M., Zeitlin, S. O., Sadri‐Vakili, G., et al. (2012) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2012.03.011 · Cited by 54
“Few HD ES cells or induced pluripotent stem (iPS) cells have been published thus far for use as HDmodel systems and limited phenotypes have been reported (Niclis et al., 2009; Park et al., 2008; Zhang et al., 2010).”
Differentiation of human pluripotent stem cells into β-cells: Potential and challenges
Quiskamp, N., Bruin, J. E., & Kieffer, T. J. (2015) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2015.10.011 · Cited by 47
Bhatt, S., Gupta, M. K., Khamaisi, M., Martinez, R., Gritsenko, M. A., Wagner, B. K., Guye, P., Busskamp, V., Shirakawa, J., Wu, G., et al. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.07.015 · Cited by 47
“To overcome such challenges, we derived induced pluripotent stem cells (iPSCs) from individuals with long-standing T1D (R50 years), termed Medalist patients (Keenan et al., 2007; Maehr et al., 2009; Park et al., 2008; Tiscornia et al., 2011), and age-matched healthy controls.”
BackgroundTrilck, M., Hübner, R., Seibler, P., Klein, C., Rolfs, A., & Frech, M. J. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-144 · Cited by 44
New Opportunities: Harnessing Induced Pluripotency for Discovery in Diabetes and Metabolism
Teo, A. K. K., Wagers, A. J., & Kulkarni, R. N. (2013) · Cell Metabolism · doi:10.1016/j.cmet.2013.08.010 · Cited by 49
“MODY2 is the firstMODY to bedescribed (Froguel et al., 1993).”
BackgroundInfluentialBack to the future: how human induced pluripotent stem cells will transform regenerative medicine
Svendsen, C. N. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt379 · Cited by 50
“Since the first set of disease-specific iPS lines were made (14), there have been many papers showing iPSCs from patients with specific human diseases can reproduce some cardinal features of the disorder (15).”
BackgroundSommer, C., Christodoulou, C., Sommer, A. G., Shen, S. S., Sailaja, B. S., Hezroni, H., Spira, A. E., Meshorer, E., Kotton, D. N., & Mostoslavsky, G. (2012) · PLoS ONE · doi:10.1371/journal.pone.0051711 · Cited by 47
“Yet, because of its simplicity, high efficiency and reproducibility, a large number of iPSC lines have been generated with retroviruses/lentiviruses [6,7,8,9], and viral transduction remains widely used.”
BackgroundNon-Viral Generation of Neural Precursor-like Cells from Adult Human Fibroblasts
Maucksch, C., Firmin, E., Butler-Munro, C., Montgomery, J. M., Dottori, M., & Connor, B. (2012) · Journal of Stem Cells and Regenerative Medicine · doi:10.46582/jsrm.0803009 · Cited by 49
“Using this technology, a range of cell types have been reprogrammed including human fibroblast cells, [2,4,5] keratinocytes, [6] mesenchymal cells, [7] peripheral blood cells ,([8]) melanocytes [9] and adipose stem cells.”
Accelerating progress in induced pluripotent stem cell research for neurological diseases
Ito, D., Okano, H., & Suzuki, N. (2012) · Annals of Neurology · doi:10.1002/ana.23596 · Cited by 49
“Simultaneously, Park et al established iPSCs derived from patients with various diseases, including sporadic PD, Duchenne/ Becker muscular dystrophy, and Huntington disease.(22) Recapitulation of the phenotype in disease-specific iPSCs was first reported by Ebert et al using iPSCs derived from a spinal muscular atroph…”
BackgroundPark, T. S., Zimmerlin, L., & Zambidis, E. T. (2012) · Cytometry Part A · doi:10.1002/cyto.a.22090 · Cited by 43
Induced pluripotent stem cells in the study of neurological diseases
Saporta, M., Grs̆ković, M., & Dimos, J. T. (2011) · Stem Cell Research & Therapy · doi:10.1186/scrt78 · Cited by 50
Experimental approaches for the generation of induced pluripotent stem cells
Sommer, C., & Mostoslavsky, G. (2010) · Stem cell research & therapeutics · doi:10.1186/scrt26 · Cited by 49
“After these fi rst studies, retroviruses were used to reprogram somatic cells from patients with a variety of diseases, including amyotrophic lateral sclerosis, Parkinson disease, type 1 diabetes mellitus, Huntington disease, and Down syndrome [ 17 ,18], providing an unprecedented oppor tunity for disease modeling and…”
MethodMavrommatis, L., Jeong, H., Kindler, U., Gomez-Giro, G., Kienitz, M., Stehling, M., Psathaki, O. E., Zeuschner, D., Bixel, M. G., Han, D., et al. (2020) · bioRxiv · doi:10.1101/2020.09.14.295832 · Cited by 48
“WB60393, passage 22-30) and DMD_iPS1 (passage 21-30) & BMD_iPS1 (passage 17-25) (Boston Children’s Hospital Stem Cell Core Facility), LGMD2A iPSC and LGMD2A-isogenic iPSC (Dorn et al., 2015; Mavrommatis et al., 2020; Park et al., 2008; Panopoulos et al., 2017) were cultured in TESR-E8 (StemCell Technologies) on Matrig…”
MethodTseng, W.-L., Chou, S., Chiang, H.-C., Wang, M., Chien, C., Chen, K.-H., Leu, H., Wang, C., Chang, Y.-L., Liu, Y.-Y., et al. (2017) · Cell Transplantation · doi:10.3727/096368916x694265 · Cited by 54
Castiglioni, V., Onorati, M., Rochon, C., & Cattaneo, E. F. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.12.032 · Cited by 44
Vita, S. D., Canzonetta, C., Mulligan, C., Delom, F., Groet, J., Baldo, C., Vanes, L., Dagna-Bricarelli, F., Hoischen, A., Veltman, J., et al. (2010) · Oncogene · doi:10.1038/onc.2010.351 · Cited by 48
“In addition, the transchromosomic ESCs provide a novel genetic dissection system (something that cannot be achieved even in human T21 iPS that has been recently established (Park et al., 2008)), in allowing modelling of selective reduction-to-disomy of individual supernumerary HSA21 genes.”
BackgroundDefinitive proof for direct reprogramming of hematopoietic cells to pluripotency.
Okabe, M., Otsu, M., Ahn, D. H., Kobayashi, T., Morita, Y., Wakiyama, Y., Onodera, M., Eto, K., Ema, H., & Nakauchi, H. (2009) · Blood · doi:10.1182/blood-2009-02-203695 · Cited by 48
Neurodevelopment in Down syndrome: Concordance in humans and models
Klein, J. A., & Haydar, T. F. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.941855 · Cited by 47
“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.”
BackgroundMatrix stiffness modulates the differentiation of neural crest stem cells in vivo
Zhu, Y., Li, X., Janairo, R. R. R., Kwong, G., Tsou, A. D., Chu, J. S. F., Wang, A., Yu, J. L., Wang, D., & Li, S. (2018) · Journal of Cellular Physiology · doi:10.1002/jcp.27518 · Cited by 58
“…cell types for the applications such as regenerative medicine and disease modeling (Ebert et al., 2009; Hirschi, Li, & Roy, 2014; Lian et al., 2010; Park et al., 2008). iPSCs are capable of differentiating into various cell types, such as neural lineages (peripheral neurons and Schwann cells; Hu…”
BackgroundKim, K.-Y., Tanaka, Y., Su, J., Cakir, B., Xiang, Y.-F., Patterson, B., Ding, J.-J., Jung, Y.-W., Kim, J.-H., Hysolli, E., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04818-0 · Cited by 47
Self-citationGee, P., Xu, H., & Hotta, A. (2017) · Stem Cells International · doi:10.1155/2017/8765154 · Cited by 37
“Male/6 YR/fibroblast (Coriell ID: GM04981) Multiple lentiviral vectors ΔExons 45–53 [8]”
Fattahi, F., Asgari, S., Pournasr, B., Seifinejad, A., Totonchi, M., Taei, A., Aghdami, N., Salekdeh, G. H., & Baharvand, H. (2012) · Molecular Biotechnology · doi:10.1007/s12033-012-9635-3 · Cited by 52
Modelling Human Disease with Pluripotent Stem Cells
Siller, R., Greenhough, S., Park, I., & Sullivan, G. J. (2013) · Current Gene Therapy · doi:10.2174/1566523211313020004 · Cited by 53
“For the first time it is now possible to generate a virtually limitless supply of highly characterised, patient-specific cells representing disease-relevant tissues [12].”
BackgroundSelf-citationLee, J., Kang, M., Park, M., Shim, S., Yoon, T., Chung, H., & Lee, D. R. (2010) · Cell Transplantation · doi:10.3727/096368910x513991 · Cited by 47
Belay, E., Mátrai, J., Acosta‐Sanchez, A., Ma, L., Quattrocelli, M., Mátés, L., Sancho‐Bru, P., Geraerts, M., Yan, B., Vermeesch, J. R., et al. (2010) · Stem Cells · doi:10.1002/stem.501 · Cited by 45
“resembles that of embryonic stem (ES) cells [13-25].”
BackgroundRoadblocks en route to the clinical application of induced pluripotent stem cells
Lowry, W. E., & Quan, W. L. (2010) · Journal of Cell Science · doi:10.1242/jcs.054304 · Cited by 40
Diversity of Adult Neural Stem and Progenitor Cells in Physiology and Disease
Finkel, Z., Esteban, F., Rodriguez, B., Fu, T., Ai, X., & Cai, L. (2021) · Cells · doi:10.3390/cells10082045 · Cited by 50
“Overall, NSPCs play an essential role in injuries or degenerative disorders that are largely affected by neurogenesis and disruptions in cell behavior such as traumatic brain injury (TBI), spinal cord injury (SCI), retinal injury, multiple sclerosis (MS), and schizophrenia [7-9].”
BackgroundFrati, G., Luciani, M., Meneghini, V., Cicco, S. D., Ståhlman, M., Blomqvist, M., Grossi, S., Filocamo, M., Morena, F., Menegon, A., et al. (2018) · Cell Death and Disease · doi:10.1038/s41419-018-0737-0 · Cited by 47
An Overview of Direct Somatic Reprogramming: The Ins and Outs of iPSCs
Menon, S., Shailendra, S., Renda, A., Longaker, M. T., & Quarto, N. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17010141 · Cited by 54
Saitta, B., Passarini, J. D., Sareen, D., Ornelas, L., Sahabian, A., Argade, S., Krakow, D., Cohn, D. H., Svendsen, C. N., & Rimoin, D. L. (2014) · Stem Cells and Development · doi:10.1089/scd.2014.0014 · Cited by 47
“The iPSC technology that replicates human disease in the culture dish [17] has already been used to model phenotypes of several disorders [18], including ALS [19,20], muscular dystrophy, Huntington’s disease [21], Parkinson’s disease [22], spinal muscular atrophy [23], Marfan syndrome [24], and osteogenesis imperfecta…”
Concise Review: A High-Content Screening Approach to Stem Cell Research and Drug Discovery
Xia, X., & Wong, S. T. C. (2012) · Stem Cells · doi:10.1002/stem.1168 · Cited by 45
Current advances in cell therapy strategies for muscular dystrophies
Négroni, E., Vallese, D., Vilquin, J., Butler-Browne, G. S., Mouly, V., & Trollet, C. (2011) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.2011.542748 · Cited by 45
“Interestingly, human iPS cells have recently been generated from DMD and BMD patient’s fibroblasts [85] and also from peripheral blood (comments in [86]).”
BackgroundInduced Pluripotent Stem Cells: A novel frontier in the study of human primary immunodeficiencies
Pessach, I. M., Ordovas-Montanes, J., Zhang, S.-Y., Casanova, J., Giliani, S., Gennery, A., Al-Herz, W., Manos, P. D., Schlaeger, T., Park, I.-H., et al. (2010) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2010.11.008 · Cited by 46
Self-citationHess, A., Gentile, S. D., Saad, A. B., Rahman, R., Habboub, T., Pratt, D. S., & Mullen, A. C. (2023) · The EMBO Journal · doi:10.15252/embj.2023113898 · Cited by 56
“The iPSC4 line was generated through approaches as previously described (Park et al , 2008; Muratore et al , 2014) using cDNAs for Oct4, Sox2, Klf4, and Myc delivered with Sendai Virus.”
Plant mediated synthesis of AgNPs and its applications: an overview
Shyam, A., Chandran, S. S., George, B., & Sreelekha, E. (2020) · Inorganic and Nano-Metal Chemistry · doi:10.1080/24701556.2020.1852254 · Cited by 60
Kidney organoids in translational medicine: Disease modeling and regenerative medicine
Miyoshi, T., Hiratsuka, K., Saiz, E. G., & Morizane, R. (2019) · Developmental Dynamics · doi:10.1002/dvdy.22 · Cited by 57
Multiple Roles of MYC in Integrating Regulatory Networks of Pluripotent Stem Cells
Fagnocchi, L., & Zippo, A. (2017) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2017.00007 · Cited by 46
“, 2007), human iPSCs were generated from patients affected from a variety of pathologies (Dimos et al., 2008; Park et al., 2008).”
BackgroundLi, Y., Balasubramanian, U., Cohen, D. A., Zhang, P.-W., Mosmiller, E., Sattler, R., Maragakis, N. J., & Rothstein, J. D. (2015) · PLoS ONE · doi:10.1371/journal.pone.0118266 · Cited by 40
Gomi, M., Takagi, Y., Morizane, A., Doi, D., Nishimura, M., Miyamoto, S., & Takahashi, J. (2012) · Brain Research · doi:10.1016/j.brainres.2012.03.049 · Cited by 45
Fu, W. E., Wang, S., Zhou, G. D., Liu, W., Cao, Y., & Zhang, W. J. (2011) · Stem Cells and Development · doi:10.1089/scd.2011.0131 · Cited by 45
Luo, Y., Fan, Y., Zhou, B., Xu, Z., Chen, Y., & Sun, X. (2012) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.226.151 · Cited by 36
“Human adult somatic tissues can be reprogrammed to a pluripotent state by transduction with a set of transcript factors (Takahashi et al. 2007; Yu et al. 2007; Lowry et al. 2008; Park et al. 2008).”
BackgroundInfluentialStem cells as a potential therapy for epilepsy
Roper, S. N., & Steindler, D. A. (2012) · Experimental Neurology · doi:10.1016/j.expneurol.2012.01.004 · Cited by 55
“A flurry of publications have appeared since these first papers describing the utilization of iPSC technology for a variety of devastating human diseases, including other neurodegenerative diseases such as spinal muscular atrophy (Ebert et al., 2009) and Parkinson's disease (Park et al., 2008).”
BackgroundImpact of induced pluripotent stem cells on the study of central nervous system disease
Cundiff, P., & Anderson, S. A. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.008 · Cited by 39
Alternative Sources of Pluripotent Stem Cells: Ethical and Scientific Issues Revisited
Condic, M. L., & Rao, M. S. (2010) · Stem Cells and Development · doi:10.1089/scd.2009.0482 · Cited by 35
“Shortly after, Park and colleagues reported on the generation of 21 disease-specific cell lines [68], representing 10 different medical conditions (ADA-SCID, Gaucher, Duchenne MD, Becker MD, Down’s, Parkinson’s, Type I Diabetes, Shwachman–Bodian– Diamond, Huntington’s, and Lesch–Nyhan).”
Derivation, culture, and characterization of VUB hESC lines
Mateizel, I., Spits, C., Rycke, M. D., Liebaers, I., & Sermon, K. (2010) · In vitro Cellular & Developmental Biology-Animal · doi:10.1007/s11626-010-9284-4 · Cited by 45
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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