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.
“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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“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.”
BackgroundPhenotypic impact of genomic structural variation: insights from and for human disease
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Generation of induced pluripotent stem cells from human blood
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Generation of human induced pluripotent stem cells from urine samples
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Modeling inherited metabolic disorders of the liver using human induced pluripotent stem cells
Rashid, S. T., Corbineau, S., Hannan, N. R. F., Marciniak, S. J., Miranda, E., Alexander, G., Huang‐Doran, I., Griffin, J. L., Ährlund‐Richter, L., Skepper, J. N., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci43122 · Cited by 598 · see citing works
Modeling early retinal development with human embryonic and induced pluripotent stem cells
Meyer, J. S., Shearer, R. L., Capowski, E. E., Wright, L. S., Wallace, K. A., McMillan, E., Zhang, S., & Gamm, D. M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0905245106 · Cited by 601 · see citing works
“The potential for iPS cells to generate multiple retinal cell types will aid in the development of in vitro models of human retinal degenerative diseases and stimulate investigation into customized stem cell therapies for patients afflicted by these disorders (34, 35).”
BackgroundEpigenetic reprogramming and induced pluripotency
Hochedlinger, K., & Plath, K. (2009) · Development · doi:10.1242/dev.020867 · Cited by 606 · see citing works
“Moreover, human fibroblasts (Lowry et al., 2008; Park et al., 2008b; Takahashi et al., 2007) and keratinocytes (Aasen et al., 2008; Maherali et al., 2008) have been converted into iPS cells using the same, and also using a different combination of factors, including OCT4, SOX2, LIN28 and NANOG (Yu…”
BackgroundMethodSelf-citationGeneration of pluripotent stem cells from patients with type 1 diabetes
Maehr, R., Chen, S., Snitow, M. E., Ludwig, T. E., Yagasaki, L., Goland, R., Leibel, R. L., & Melton, D. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906894106 · Cited by 569 · see citing works
Modeling familial Alzheimer's disease with induced pluripotent stem cells
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Pluripotent stem cells in disease modelling and drug discovery
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“…the generation of patient-specific iPSC in the context of PD (Park et al, 2008a; Soldner et al, 2009, 2011) or other conditions (Dimos et al, 2008; Park et al, 2008a; Raya et al, 2010), the efficiency of iPSC generation varied among different individuals, but did not depend on the presence or…”
InfluentialInduced pluripotent stem cells in disease modelling and drug discovery
Rowe, R. G., & Daley, G. Q. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-019-0100-z · Cited by 681 · see citing works
Self-citationA genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
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Ethical issues in stem cell research.
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Feeder-free derivation of induced pluripotent stem cells from adult human adipose stem cells
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“More importantly, the generation of patient-specific and disease-specific (4) iPS cells has the potential to greatly impact the future of regenerative medicine, drug development, as well as our basic understanding of specific disease mechanisms.”
BackgroundLive 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
“Direct reprogramming of differentiated human cells into iPS cells provides a long-sought strategy to generate patient- and disease-specific pluripotent stem cell”
BackgroundSelf-citationLi, H., Fujimoto, N., Sasakawa, N., Shirai, S., Ohkame, T., Sakuma, T., Tanaka, M., Amano, N., Watanabe, A., Sakurai, H., et al. (2014) · Stem Cell Reports · doi:10.1016/j.stemcr.2014.10.013 · Cited by 523 · see citing works
“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.”
BackgroundMethodChallenges in Cardiac Tissue Engineering
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Generation of induced pluripotent stem cells from human cord blood.
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“Patient-specific iPS cell lines have been generated for several diseases, including hematologic (4), metabolic (5, 6), and neurologic disorders (5, 7–9).”
BackgroundSchöndorf, D. C., Aureli, M., McAllister, F., Hindley, C., Mayer, F., Schmid, B., Sardi, S., Valsecchi, M., Hoffmann, S., Schwarz, L. K., et al. (2014) · Nature Communications · doi:10.1038/ncomms5028 · Cited by 516 · see citing works
Guidelines and techniques for the generation of induced pluripotent stem cells.
Maherali, N., & Hochedlinger, K. (2008) · Cell Stem Cell · doi:10.1016/j.stem.2008.11.008 · Cited by 508 · see citing works
“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.,…”
BackgroundSelf-citationStudying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs
Kim, C., Wong, J., Wen, J., Wang, S., Wang, C., Spiering, S., Kan, N. G., Forcales, S. V., Puri, P., Leone, T. C., et al. (2013) · Nature · doi:10.1038/nature11799 · Cited by 529 · see citing works
iPS Cells Can Support Full-Term Development of Tetraploid Blastocyst-Complemented Embryos
Kang, L., Wang, J., Zhang, Y., Kou, Z., & Gao, S. (2009) · Cell stem cell · doi:10.1016/j.stem.2009.07.001 · Cited by 458 · see citing works
“…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 482 · see citing works
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 · see citing works
“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 474 · see citing works
Self-citationRepair of Acute Myocardial Infarction by Human Stemness Factors Induced Pluripotent Stem Cells
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The HD iPSC Consortium (2012) · Cell stem cell · doi:10.1016/j.stem.2012.04.027 · Cited by 482 · see citing works
“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 459 · 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
Cardiomyocyte Differentiation of Human Induced Pluripotent Stem Cells
Zwi, L., Caspi, O., Arbel, G., Huber, I., Gepstein, A., Park, I.-H., & Gepstein, L. (2009) · Circulation · doi:10.1161/circulationaha.109.868885 · Cited by 451 · see citing works
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 · see citing works
“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. (2008) · Nature reviews. Molecular cell biology · doi:10.1038/nrm2466 · Cited by 441 · see citing works
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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 · see citing works
Reprogramming of peripheral blood cells to induced pluripotent stem cells
Staerk, J., Dawlaty, M., Gao, Q., Maetzel, D., Hanna, J., Sommer, C., Mostoslavsky, G., & Jaenisch, R. (2010) · Cell Stem Cell · doi:10.1016/j.stem.2010.06.002 · Cited by 418 · see citing works
“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 · see citing works
“…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., & Benvenisty, N. (2010) · Cell Stem Cell · doi:10.1016/j.stem.2010.04.005 · Cited by 411 · see citing works
“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. (2012) · Cell Stem Cell · doi:10.1016/j.stem.2012.04.001 · Cited by 409 · see citing works
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 408 · see citing works
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 414 · see citing works
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 397 · see citing works
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 403 · see citing works
“…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 378 · see citing works
Genetic Correction of Huntington’s Disease Phenotypes in Induced Pluripotent Stem Cells
An, M., Zhang, N.-Z., Scott, G., Montoro, D. T., Wittkop, T., Mooney, S., Melov, S., & Ellerby, L. (2012) · Cell Stem Cell · doi:10.1016/j.stem.2012.04.026 · Cited by 385 · see citing works
“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 421 · see citing works
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 375 · see citing works
“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 · see citing works
“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 378 · see citing works
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 361 · see citing works
“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 · see citing works
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 · see citing works
“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 · see citing works
Utikal, J., Maherali, N., Kulalert, W., & Hochedlinger, K. (2009) · Journal of Cell Science · doi:10.1242/jcs.054783 · Cited by 348 · see citing works
“…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 · see citing works
Biological gene delivery vehicles: beyond viral vectors.
Seow, Y., & Wood, M. (2009) · Molecular Therapy · doi:10.1038/mt.2009.41 · Cited by 339 · see citing works
Nuclear Reprogramming in Cells
Gurdon, J., & Melton, D. A. (2008) · Science · doi:10.1126/science.1160810 · Cited by 338 · see citing works
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
Agarwal, S., Loh, Y., McLoughlin, E. M., Huang, J.-J., Park, I.-H., Miller, J. D., Huo, H.-G., Okuka, M., dos Reis, R., Loewer, S., et al. (2010) · Nature · doi:10.1038/nature08792 · Cited by 335 · see citing works
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 · 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
“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 Manipulations in Vertebrates
Ivics, Z., Li, M., Mátés, L., Boeke, J., Nagy, A., Bradley, A., & Izsvák, Z. (2009) · Nature Methods · doi:10.1038/nmeth.1332 · Cited by 318 · see citing works
“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.-N., Zhao, T.-F., Wang, J.-K., Wang, C.-G., 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 316 · 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 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).”
BackgroundA 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 · see citing works
“Culture of hESCs (H9, WiCell Research Institute, and SC-321, DS-ES cells) and hiPS cell lines [DS1-iPS4, Harvard Stem Cell Institute (18); BBHX and CRL healthy control iPS lines, provided by L.”
Influential
- 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
- Health Sciences › Medicine › Genetics › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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