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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 this assay, the in vivo differentiation potential of human iPS cells is measured after their injection subcutaneously or intramuscularly into immunodeficient mic”
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“Interest in the potential utility of studying patient-derived microglia has been raised by the recently accrued capacity to model neurodegenerative diseases using patient-derived induced pluripotent stem (iPS) cells that can give rise to neurons and astrocytes with disease phenotypes in cultur”
BackgroundModelling the long QT syndrome with induced pluripotent stem cells
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“Park et al. (2008a) have generated iPS cells from patients with ten different diseases including Parkinson’s disease and juvenile diabetes, and Ebert et al. (2009) have done the same for SMA patients.”
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Generation of induced pluripotent stem cells from human blood
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“Direct reprogramming of differentiated human cells into iPS cells provides a long-sought strategy to generate patient- and disease-specific pluripotent stem cell”
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“Accordingly, when conjugated with made-to-order genetic correction technologies, human iPSCs derived from a patient with a genetic disorder (Park et al., 2008; Hotta et al., 2009) might be applicable to autologous transplantation as ex vivo gene therapy (Sebastiano et al.”
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“This core set of factors has been shown to work across a multitude of mouse cell types (Aoi et al., 2008; Eminli et al., 2008; Hanna et al., 2008; Kim et al., 2008; Stadtfeld et al., 2008a, 2008c; Wernig et al., 2008a), as well as rhesus monkey (Liu et al., 2008) and human cells ( Park et al., 2008a; Takahashi et al.,…”
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“…patients has raised hopes for treating many degenerative and genetic diseases (Dimos et al., 2008; Ebert et al., 2009; Hanna et al., 2007; Park et al., 2008; Soldner et al., 2009; Takahashi et al., 2007; Takahashi and Yamanaka, 2006; Wernig et al., 2008; Yu et al., 2007). iPSCs can…”
BackgroundDerivation of induced pluripotent stem cells from pig somatic cells
Ezashi, T., Telugu, B. P. V. L., Alexenko, A. P., Sachdev, S., Sinha, S., & Roberts, R. M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0905284106 · Cited by 489
Parkinson’s disease induced pluripotent stem cells with triplication of the α-synuclein locus
Devine, M. J., Ryten, M., Vodicka, P., Thomson, A. J., Burdon, T., Houlden, H., Cavaleri, F., Nagano, M., Drummond, N. J., Taanman, J.-W., et al. (2011) · Nature Communications · doi:10.1038/ncomms1453 · Cited by 486
“Generation of iPSCs from individuals with sporadic PD has been reporte”
BackgroundInduced pluripotent stem cells — opportunities for disease modelling and drug discovery
Grs̆ković, M., Javaherian, A., Strulovici, B., & Daley, G. Q. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3577 · Cited by 492
Self-citationRepair of Acute Myocardial Infarction by Human Stemness Factors Induced Pluripotent Stem Cells
Nelson, T. J., Martinez‐Fernandez, A., Yamada, S., Pérez-Terzic, C. M., Ikeda, Y., & Terzic, A. (2009) · Circulation · doi:10.1161/circulationaha.109.865154 · Cited by 474
The HD iPSC Consortium (2012) · Cell stem cell · doi:10.1016/j.stem.2012.04.027 · Cited by 493
“Indeed, human iPSC lines have been generated from a variety of individuals, including HD patients (Park et al., 2008).”
BackgroundAdult mice generated from induced pluripotent stem cells
Boland, M. J., Hazen, J. L., Nazor, K. L., Rodriguez, A. R., Gifford, W. D., Martin, G., Kupriyanov, S., & Baldwin, K. K. (2009) · Nature · doi:10.1038/nature08310 · Cited by 473
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 454
Cardiomyocyte Differentiation of Human Induced Pluripotent Stem Cells
Zwi‐Dantsis, L., Caspi, O., Arbel, G., Huber, I., Gepstein, A., Park, I., & Gepstein, L. (2009) · Circulation · doi:10.1161/circulationaha.109.868885 · Cited by 440
Self-citationGeneration of Functional Human Hepatic Endoderm From Human Induced Pluripotent Stem Cells
Sullivan, G. J., Hay, D. C., Park, I.-H., Fletcher, J., Hannoun, Z., Payne, C. M., Dalgetty, D., Black, J. R., Ross, J. A., Samuel, K., et al. (2010) · Hepatology · doi:10.1002/hep.23335 · Cited by 445
“iPS cells from diabetic North American Indian (JDM-iPS1) and female Caucasian (PGP9iPS1) were reported previously [6–7].”
BackgroundMethodInfluentialSelf-citationThe promise of human induced pluripotent stem cells for research and therapy
Nishikawa, S., Goldstein, R. A., & Nierras, C. R. (2008) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2466 · Cited by 423
Osakada, F., Jin, Z., Hirami, Y., Ikeda, H. O., Danjyo, T., Watanabe, K., Sasai, Y., & Takahashi, M. (2009) · Journal of Cell Science · doi:10.1242/jcs.050393 · Cited by 436
Organ-on-a-chip devices advance to market
Zhang, B., & Radisic, M. (2017) · Lab on a Chip · doi:10.1039/c6lc01554a · Cited by 437
Generation of induced pluripotent stem cells from urine
Zhou, T., Benda, C., Duzinger, S., Huang, Y., Li, X., Li, Y., Guo, X., Cao, G., Chen, S., Hao, L., et al. (2011) · Journal of the American Society of Nephrology · doi:10.1681/asn.2011010106 · Cited by 421
Reprogramming of Human Peripheral Blood Cells to Induced Pluripotent Stem Cells
Staerk, J., Dawlaty, M. M., Gao, Q., Maetzel, D., Hanna, J. H., Sommer, C., Mostoslavsky, G., & Jaenisch, R. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.06.002 · Cited by 469
“A major step to achieve this was the recent discovery that ectopic expression of defined transcription factors induces pluripotency in somatic cells (Lowry et al., 2008; Park et al., 2008b; Takahashi et al., 2007; Yu et al., 2007).”
BackgroundTechnical Challenges in Using Human Induced Pluripotent Stem Cells to Model Disease
Saha, K., & Jaenisch, R. (2009) · Cell Stem Cell · doi:10.1016/j.stem.2009.11.009 · Cited by 411
“…a new technique of deriving human pluripotent stem cells has rapidly evolved since 2007. hiPSCs were first generated through viral transduction of four transcription factors into previously banked human fibroblasts (Lowry et al., 2008; Park et al., 2008a; Takahashi et al., 2007; Yu et al., 2007).”
BackgroundInfluentialUrbach, A., Bar‐Nur, O., Daley, G. Q., & Benvenisty, N. (2010) · Cell stem cell · doi:10.1016/j.stem.2010.04.005 · Cited by 421
“These induced pluripotent stem cells (iPSCs) show remarkable similarity to human ESCs (Lowry et al., 2008; Park et al., 2008c; Takahashi et al., 2007; Yu et al., 2007).”
BackgroundMethodInfluentialSelf-citationTissue-Specific Stem Cells: Lessons from the Skeletal Muscle Satellite Cell
Brack, A. S., & Rando, T. A. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.04.001 · Cited by 421
Induced pluripotent stem cells: current progress and potential for regenerative medicine
Amabile, G., & Meissner, A. (2009) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2008.12.003 · Cited by 391
Generation of Induced Pluripotent Stem Cell Lines from Tibetan Miniature Pig
Esteban, M. A., Xu, J., Yang, J., Peng, M., Qin, D., Li, W., Jiang, Z., Chen, J., Deng, K., Zhong, M., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.008938 · Cited by 417
Ye, Z., Zhan, H., Mali, P., Dowey, S. N., Williams, D. M., Jang, Y.-Y., Dang, C. V., Spivak, J. L., Moliterno, A. R., & Cheng, L. (2009) · Blood · doi:10.1182/blood-2009-04-217406 · Cited by 412
iPS cells: a game changer for future medicine
Inoue, H., Nagata, N., Kurokawa, H., & Yamanaka, S. (2014) · The EMBO Journal · doi:10.1002/embj.201387098 · Cited by 414
“…iPSCs in 2007, the initiation of iPSC disease modeling was started by the generation of iPSCs using somatic cells from aged patients (Dimos et al, 2008) and patients with many types of diseases (Park et al, 2008), and the variety of diseases being modeled continues to grow (Supplementary Table S1).”
BackgroundInduced Pluripotent Stem Cells
Okita, K., Takahashi, K., & Yamanaka, S. (2011) · SpringerBriefs in Stem Cells · doi:10.1007/978-1-4614-2206-8 · Cited by 388
Imaizumi, Y., Okada, Y., Akamatsu, W., Koike, M., Kuzumaki, N., Hayakawa, H., Nihira, T., Kobayashi, T., Ohyama, M., Sato, S., et al. (2012) · Molecular Brain · doi:10.1186/1756-6606-5-35 · Cited by 385
Genetic Correction of Huntington's Disease Phenotypes in Induced Pluripotent Stem Cells
An, M. C., Zhang, N., Scott, G. K., Montoro, D. T., Wittkop, T., Mooney, S. D., Melov, S., & Ellerby, L. (2012) · Cell stem cell · doi:10.1016/j.stem.2012.04.026 · Cited by 389
“Yet due to a variety of technical challenges posed by human stem cell manipulation, gene targeting in human ESCs and iPSCs has not been as well established (Costa et al., 2007; Davis et al., 2009; Ruby and Zheng, 2009; Song et al., 2010; Urbach et al., 2004; Yusa et al., 2011; Zou et al., 2009; Zwaka and Thomson, 2003…”
BackgroundMethodInfluentialSingh, V. K., Kalsan, M., Kumar, N., Saini, A., & Chandra, R. (2015) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2015.00002 · Cited by 442
Seibler, P., Graziotto, J. J., Jeong, H., Šimunović, F., Klein, C., & Krainc, D. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.4441-10.2011 · Cited by 388
“DOI:10.1523/JNEUROSCI.4441-10.2011 Copyright © 2011 the authors 0270-6474/11/315970-07$15.00/0 the G. Q. Daley laboratory (Children’s Hospital, Boston, MA) and viral production was conducted as previously described (Park et al., 2008a).”
BackgroundMethodInfluentialMuratore, C. R., Rice, H. C., Srikanth, P., Callahan, D. G., Shin, T., Benjamin, L. N. P., Walsh, D. M., Selkoe, D. J., & Young-Pearse, T. L. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu064 · Cited by 379
“Familial AD iPSC lines were derived at the HSCI iPS Core facility under the direction of Dr Laurence Daheron.”
InfluentialSomatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
Abyzov, A. S., Mariani, J., Palejev, D., Zhang, Y., Haney, M. S., Tomasini, L., Ferrandino, A. F., Belmaker, L. R., Szekely, A. M., Wilson, M., et al. (2012) · Nature · doi:10.1038/nature11629 · Cited by 385
Clinical application of stem cell therapy in Parkinson's disease
Politis, M., & Lindvall, O. (2012) · BMC Medicine · doi:10.1186/1741-7015-10-1 · Cited by 416
“The iPSC technology has raised the possibility of generating an unlimited source of PD patient-specific DA-ergic neurons, which theoretically also could be used for autologous transplantation [34-37].”
Generation of functional thyroid from embryonic stem cells
Antonica, F., Kasprzyk, D. F., Opitz, R., Iacovino, M., Liao, X.-H., Dumitrescu, A. M., Refetoff, S., Peremans, K., Manto, M., Kyba, M., et al. (2012) · Nature · doi:10.1038/nature11525 · Cited by 359
Role of adipose‐derived stem cells in wound healing
Hassan, W., Greiser, U., & Wang, W.-X. (2014) · Wound Repair and Regeneration · doi:10.1111/wrr.12173 · Cited by 354
“Mesenchymal stem cells (MSCs) have been the main focus of research in recent years, although embryonic stem cells(22,23) and induce pluripotent stem cells (iPSCs) are also being tested.(24,25) However, these cells come with various limitations: genetic manipulation of iPSCs, ethical consideration, and control of cellu…”
BackgroundTranslating Dosage Compensation to Trisomy 21
Jiang, J., Jing, Y.-C., Cost, G., Chiang, J.-C., Kolpa, H. J., Cotton, A. M., Carone, D. M., Carone, B. R., Shivak, D. A., Guschin, D., et al. (2013) · Nature · doi:10.1038/nature12394 · Cited by 349
Utikal, J. S., Maherali, N., Kulalert, W., & Hochedlinger, K. (2009) · Journal of Cell Science · doi:10.1242/jcs.054783 · Cited by 371
“…either Klf4 and c-Myc or Lin28 and Nanog (Hockemeyer et al., 2008; Liao et al., 2008; Liu et al., 2008; Maherali et al., 2007; Okita et al., 2007; Park et al., 2008b; Takahashi and Yamanaka, 2006; Takahashi et al., 2007; Yu et al., 2007; Wernig et al., 2007; Hochedlinger and Plath, 2009; Li et…”
BackgroundSelf-citationProgress toward the clinical application of patient-specific pluripotent stem cells
Kiskinis, E., & Eggan, K. (2010) · Journal of Clinical Investigation · doi:10.1172/jci40553 · Cited by 339
Biological Gene Delivery Vehicles: Beyond Viral Vectors
Seow, Y., & Wood, M. J. A. (2009) · Molecular Therapy · doi:10.1038/mt.2009.41 · Cited by 331
Nuclear Reprogramming in Cells
Gurdon, J. B., & Melton, D. A. (2008) · Science · doi:10.1126/science.1160810 · Cited by 330
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
Agarwal, S., Loh, Y., McLoughlin, E. M., Huang, J., Park, I., Miller, J. D., Huo, H., Okuka, M., dos Reis, R. M., Loewer, S., et al. (2010) · Nature · doi:10.1038/nature08792 · Cited by 334
Self-citationAcquired cancer stem cell phenotypes through Oct4-mediated dedifferentiation
Kumar, S. M., Liu, S.-J., Lu, H., Zhang, H., Zhang, P. J. L., Gimotty, P., Guerra, M., Guo, W., & Xu, X.-W. (2012) · Oncogene · doi:10.1038/onc.2011.656 · Cited by 330
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 306
“This makes them useful reporters to more efficiently isolate accurately reprogrammed iPS cell lines from knockout or transgenic mice, which may be difficult to cross with Nanog - or Oct4 -reporter mice, and from human biopsies to model disease in vitro”
BackgroundTransposon-mediated genome manipulation in vertebrates
Ivics, Z., Li, M. A., Mátés, L., Boeke, J. D., Nagy, A., Bradley, A., & Izsvák, Z. (2009) · Nature Methods · doi:10.1038/nmeth.1332 · Cited by 297
“Finally, recent advances in iPSC reprogramming should facilitate the identification of genetic determinants involved in physiological or pathological pathways in cells derived from patients with specific genetic diseases [69].”
BackgroundXiao, S., Zhao, T., Wang, J., Wang, C., Du, J., Ying, L., Lin, J., Zhang, C., Hu, W., Wang, L., et al. (2019) · Stem Cell Reviews and Reports · doi:10.1007/s12015-019-09893-4 · Cited by 372
The Human Brain in a Dish: The Promise of iPSC-Derived Neurons
Dolmetsch, R. E., & Geschwind, D. H. (2011) · Cell · doi:10.1016/j.cell.2011.05.034 · Cited by 320
“The advantages of hiPSC-derived neurons and the prospect of developing better preclinical models for neuropsychiatric diseases led several groups to generate hiPSCs from patients with genetic neurological disorders (Marchetto et al., 2010; Park et al., 2008; Urbach et al., 2010).”
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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