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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
Yu, J., Vodyanik, M. A., Smuga-Otto, K., Antosiewicz-Bourget, J., Frane, J. L., Tian, S., Nie, J., Jonsdottir, G. A., Ruotti, V., Stewart, R., et al. (2007) · Science · doi:10.1126/science.1151526 · Cited by 10,310 · 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).”
Reprogramming of human somatic cells to pluripotency with defined factors
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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).”
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).”
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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.”
MethodInfluentialSelf-citationNon–cell autonomous effect of glia on motor neurons in an embryonic stem cell–based ALS model
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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 801–900 of 1,010
The immune boundaries for stem cell based therapies: problems and prospective solutions.
Abdelkrim, H., Juan, D., Jane, W., Mohamed, A., & Bernat, S. (2009) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2009.00837.x · Cited by 30
Modeling Schizophrenia Using Induced Pluripotent Stem Cell–Derived and Fibroblast-Induced Neurons
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DNA Repair of Cancer Stem Cells
Mathews, L. A., Cabarcas, S. M., & Hurt, E. M. (2013) · Springer Netherlands · doi:10.1007/978-94-007-4590-2 · Cited by 30
“Tyrosyl-DNA phosphodiesterase 1 (Tdp1) is an end-processing enzyme that repairs several 3′-blocking termini including 3′phosphoglycolate; however, its preferred substrate is the 3′-phosphotyrosyl bond, which stems from dead-end topoisomerase I reactions [38].”
BackgroundResultLiew, C. (2010) · The review of diabetic studies : RDS · doi:10.1900/rds.2010.7.82 · Cited by 30
“Human iPSC lines from patients with other genetic diseases, including type 1 diabetes (T1D), have been derived [65].”
BackgroundBalan, S., Toyoshima, M., & Yoshikawa, T. (2018) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.04.021 · Cited by 31
Studying Huntington’s Disease in Yeast: From Mechanisms to Pharmacological Approaches
Hofer, S. J., Kainz, K., Zimmermann, A., Bauer, M. A., Pendl, T., Poglitsch, M., Madeo, F., & Carmona‐Gutiérrez, D. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00318 · Cited by 41
The Importance of Non-neuronal Cell Types in hiPSC-Based Disease Modeling and Drug Screening
Gonzalez, D. M., Gregory, J. K., & Brennand, K. (2017) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2017.00117 · Cited by 26
“…cell models of complex genetic diseases have helped to shed new light on the pathology of various neurodegenerative and neuropsychiatric disorders (Di Giorgio et al., 2008; Dimos et al., 2008; Park et al., 2008; Soldner et al., 2009; Brennand et al., 2011; Yagi et al., 2011; Yoon et al., 2014).”
BackgroundSystematic evaluation of markers used for the identification of human induced pluripotent stem cells
Bharathan, S. P., Manian, K., Aalam, S. M. M., Palani, D., Deshpande, P., Pratheesh, M., Srivastava, A., & Velayudhan, S. (2017) · Biology Open · doi:10.1242/bio.022111 · Cited by 29
“To favor teratoma formation, the cells were injectedwithMatrigel and Collagen I intramuscularly into the hind limbs of 4-7-week-old mice, using a previously described protocol (Park et al., 2008a).”
BackgroundMethodInfluentialModeling axonal defects in hereditary spastic paraplegia with human pluripotent stem cells
Denton, K. R., Xu, C., Shah, H., & Li, X. J. (2016) · Frontiers in Biology · doi:10.1007/s11515-016-1416-0 · Cited by 30
“…recapitulated phenotypes from ALS (Dimos et al., 2008; Bilican et al., 2012), spinal muscular atrophy (Ebert et al., 2009), Huntington's disease (Park et al., 2008; Zhang et al., 2010), Parkinson's disease (Park et al., 2008; Nguyen et al., 2011), and Alzheimer's disease (Yagi et al., 2011;…”
Vascular diseases await translation of blood vessels engineered from stem cells
Samuel, R., Duda, D. G., Fukumura, D., & Jain, R. K. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.aaa1805 · Cited by 29
Yabe, S. G., Iwasaki, N., Yasuda, K., Hamazaki, T. S., Konno, M., Fukuda, S., Takeda, F., Kasuga, M., & Okochi, H. (2015) · Journal of Diabetes Investigation · doi:10.1111/jdi.12334 · Cited by 29
Potential and Challenges of Induced Pluripotent Stem Cells in Liver Diseases Treatment
Yu, Y., Wang, X., & Nyberg, S. L. (2014) · Journal of Clinical Medicine · doi:10.3390/jcm3030997 · Cited by 31
“Disease modelling using iPSCs has been achieved for a variety of genetic diseases [38].”
BackgroundLiu, X.-J., Huang, Q., Li, F., & Li, C.-Y. (2014) · Science China Life Sciences · doi:10.1007/s11427-014-4730-2 · Cited by 29
Advances in the understanding of Barth syndrome
Aprikyan, A. A., & Khuchua, Z. (2013) · British Journal of Haematology · doi:10.1111/bjh.12271 · Cited by 29
Efficient Induction of Pluripotent Stem Cells from Menstrual Blood
Li, Y., Li, X.-N., Zhao, H.-X., Feng, R.-P., Zhang, X.-Y., Tai, D.-P., An, G., Wen, J.-H., & Tan, J. (2013) · Stem Cells and Development · doi:10.1089/scd.2012.0428 · Cited by 29
Tunable and dynamic soft materials for three-dimensional cell culture
Rehmann, M., & Kloxin, A. M. (2013) · Soft Matter · doi:10.1039/c3sm50217a · Cited by 29
Expression of Pluripotency and Multipotency Factors in Human Ocular Surface Tissues
Pauklin, M., Thomasen, H., Pester, A., Steuhl, K., & Meller, D. (2011) · Current Eye Research · doi:10.3109/02713683.2011.608238 · Cited by 29
The evolving biology of cell reprogramming
Wilmut, I., Sullivan, G. J., & Chambers, I. (2011) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2011.0051 · Cited by 47
Mukherjee, S., Santilli, G., Blundell, M. P., Navarro, S., Bueren, J. A., & Thrasher, A. J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0017565 · Cited by 25
In vitro regeneration of kidney from pluripotent stem cells.
Osafune, K. (2010) · Experimental Cell Research · doi:10.1016/j.yexcr.2010.04.034 · Cited by 29
“Disease-specific iPS cells has also been produced by other groups from more than 10 different genetic diseases, including Parkinson’s disease, type-1 diabetes, Duchenne’s and Becker’s muscular dystrophy, adenosine deaminase deficiency-related severe combined immunodeficiency, Shwachman-Bodian-Diamond syndrome, Gaucher…”
BackgroundHuang, H.-P., Yu, C.-Y., Chen, H.-F., Chen, P.-H., Chuang, C.-Y., Lin, S.-J., Huang, S.-T., Chan, W., Ueng, T., Ho, H., et al. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.122093 · Cited by 29
An introduction to induced pluripotent stem cells
Hanley, J., Rastegarlari, G., & Nathwani, A. C. (2010) · British Journal of Haematology · doi:10.1111/j.1365-2141.2010.08296.x · Cited by 28
“Disease-specific iPS cell lines have already been created from patients suffering from amyotrophic lateral 18 ª 2010 Blackwell Publishing Ltd, British Journal of Haematology, 151, 16–24 sclerosis (Dimos et al, 2008), juvenile onset type 1 diabetes mellitus (Park, 2008), Parkinson’s disease and spinal muscular atrophy…”
BackgroundInfluentialMultipotent Progenitor Cells in Regenerative Cardiovascular Medicine
Lam, J. T., Moretti, A., & Laugwitz, K. (2009) · Pediatric Cardiology · doi:10.1007/s00246-009-9450-1 · Cited by 27
“Recent reports have illustrated examples of establishing iPS cells from skin fibroblasts of an 82-year-old woman with amyotrophic lateral sclerosis, a child with spinal muscular atrophy, and patients with a variety of both simple and complex genetic disorders [14, 15, 42].”
BackgroundStem cell biology and cell transplantation therapy in the retina
Osakada, F., Hirami, Y., & Takahashi, M. (2009) · Biotechnology and Genetic Engineering Reviews · doi:10.5661/bger-26-297 · Cited by 31
“iPS cell technology represents a great advance in the field of regenerative medicine (Hanna et al., 2007; Dimos et al., 2008; Park et al., 2008; Ebert et al., 2009; Ye et al., 2009).”
BackgroundUrine as a Source of Stem Cells
Benda, C., Zhou, T., Wang, X., Tian, W., Grillari, J., Tse, H., Grillari‐Voglauer, R., Pei, D., & Esteban, M. A. (2012) · Advances in biochemical engineering, biotechnology · doi:10.1007/10_2012_157 · Cited by 28
“The procedure was subsequently reproduced by several groups using human cells from normal individuals and also a multitude of patients with genetic diseases [41–46].”
MethodEstévez-Priego, E., Moreno-Fina, M., Monni, E., Kokaia, Z., Soriano, J., & Tornero, D. (2022) · Stem Cell Reports · doi:10.1016/j.stemcr.2022.11.014 · Cited by 29
“During the last 10 years, many studies using hiPSC-derived neural cultures have established in vitro systems that more reliably identify molecular pathways and predict effective drug targets for neurological disorders (Park et al., 2008; Bellin et al., 2012; Shi et al., 2012; Inoue et al., 2014).”
BackgroundResearch models of neurodevelopmental disorders: The right model in the right place
Damianidou, E., Mouratidou, L., & Kyrousi, C. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.1031075 · Cited by 41
“With the use of different culture media, hESCs and hiPSCs have been differentiated in two-dimensional (2D) neuronal cultures (Park et al., 2008), namely the monolayer cell cultures, including dopaminergic neurons (Sánchez-Danés et al.”
BackgroundChrysanthou, M., Estruch, I. M., Rietjens, I. M. C. M., Wichers, H. J., & Hoppenbrouwers, T. (2022) · Nutrients · doi:10.3390/nu14020363 · Cited by 31
Paz, M. V., Povea-Cabello, S., Villalón-García, I., Suarez-Rivero, J. M., Álvarez-Córdoba, M., de la Mata, M., Talaverón-Rey, M., Jackson, S., & Sánchez-Alcázar, J. A. (2019) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2019.02.010 · Cited by 31
Galat, V., Galat, Y., Perepitchka, M., Jennings, L. J., Iannaccone, P., & Hendrix, M. (2016) · Stem Cells and Development · doi:10.1089/scd.2015.0366 · Cited by 28
“This residual expression did not interfere with the formation of teratoma and mature cell formation [5,28].”
BackgroundStem cells and the treatment of Parkinson's disease
Ali, F. R., Stott, S., & Barker, R. A. (2013) · Experimental Neurology · doi:10.1016/j.expneurol.2012.12.017 · Cited by 29
“Initially these studies focused on generating iPSC derived DA neurons for neural repair (Hargus et al., 2010; Park et al., 2008b; Soldner et al., 2009) and in these cases no specific PD phenotype was observed, although this may relate to culture methods and how deficits were looked for in the cells…”
The winding road to pluripotency (Nobel Lecture).
Yamanaka, S. (2013) · Angewandte Chemie · doi:10.1002/anie.201306721 · Cited by 28
Titmarsh, D., Ovchinnikov, D., Wolvetang, E., & Cooper-White, J. (2013) · Biotechnology Journal · doi:10.1002/biot.201200375 · Cited by 28
“Human pluripotent stem cells [1, 2] (hPSCs) are promising cell sources for expansion and subsequent differentiation into specialized cells for use in transplantation [3], modeling of disease [4, 5] and development [5, 6], and for preclinical drug screening [7].”
BackgroundInduced pluripotent stem cells: From Nobel Prizes to clinical applications
Rashid, S. T., & Alexander, G. (2012) · Journal of Hepatology · doi:10.1016/j.jhep.2012.10.026 · Cited by 28
“Following the first human fibroblast derivation of iPSCs, investigators went on to show that the reprogramming protocol could be used in cells taken from patients with a wide range of Mendelian and complex genetic disease backgrounds [4].”
BackgroundDifferentiation of mouse induced pluripotent stem cells into corneal epithelial‐like cells
Yu, D., Chen, M., Sun, X.-R., & Ge, J. (2013) · Cell Biology International · doi:10.1002/cbin.10007 · Cited by 28
“…into cell types of the three germ layers (Yamanaka, 2007; Mauritz et al., 2008; Narazaki et al., *Corresponding author: e-mail: gejian@mail.sysu.edu.cn Cell Biol Int 37 (2013) 87–94 201 International Federation for Cell Biology 872 2008; Park et al., 2008a; Schenke-Layland et al., 2008).”
BackgroundIn Vitro Uses of Human Pluripotent Stem Cell-Derived Cardiomyocytes
Matsa, E., & Denning, C. N. (2012) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-012-9376-5 · Cited by 24
“Characterisation of derived PS-hiPSC lines has varied from confirmation of disease genotype [80] to complex pharmacological testing [81] and genetic correction by homologous recombination [82].”
BackgroundNat, R., & Dechant, G. (2010) · Stem Cells and Development · doi:10.1089/scd.2010.0417 · Cited by 25
Yechoor, V. K., & Chan, L. (2010) · Molecular Endocrinology · doi:10.1210/me.2009-0311 · Cited by 26
Approaches for immunological tolerance induction to stem cell-derived cell replacement therapies
Boyd, A. S., & Fairchild, P. J. (2010) · Expert Review of Clinical Immunology · doi:10.1586/eci.10.20 · Cited by 28
Cellular therapy for fanconi anemia: the past, present, and future.
MacMillan, M., Hughes, M., Agarwal, S., & Daley, G. (2011) · Biology of Blood and Marrow Transplantation · doi:10.1016/j.bbmt.2010.11.027 · Cited by 28
“Human iPS technology thus permits the creation of highly tractable and versatile cell lines carrying our patients’ genetic lesions [35], ushering in new possibilities for disease modeling and autologous cellular therapy.”
BackgroundSelf-citationKaye, J., Reisine, T., & Finkbeiner, S. M. (2022) · Faculty Reviews · doi:10.12703/r/11-16 · Cited by 37
Cui, Y.-T., Zhao, H., Wu, S.-W., & Li, X.-T. (2020) · Stem Cell Reviews and Reports · doi:10.1007/s12015-020-10039-0 · Cited by 27
Recent advances of induced pluripotent stem cells application in neurodegenerative diseases
Amin, N., Tan, X., Ren, Q., Zhu, N., Botchway, B. O. A., Hu, Z., & Fang, M. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.109674 · Cited by 36
The Need for Physiological Micro-Nanofluidic Systems of the Brain
Frimat, J., & Lüttge, R. (2019) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2019.00100 · Cited by 32
“diseased hiPSC screening, the collection of patient-derived iPSCs can allow for diagnosis and in vitro drug treatment prior to patient treatment, which could lead to more personal and efficient diagnoses and drug treatments (Park et al., 2008; Dolmetsch and Geschwind, 2011).”
BackgroundTreatment of Diabetes Mellitus Using iPS Cells and Spice Polyphenols
Ge, Q., Chen, L., & Chen, K. (2017) · Journal of Diabetes Research · doi:10.1155/2017/5837804 · Cited by 30
Yasui, T., Uezono, N., Nakashima, H., Noguchi, H., Matsuda, T., Noda-Andoh, T., Okano, H., & Nakashima, K. (2017) · Stem Cell Reports · doi:10.1016/j.stemcr.2017.05.001 · Cited by 27
“…hiPSCs), have been shown to recapitulate neural development to some extent in vitro (Takahashi et al., 2007; Thomson et al., 1998; Yu et al., 2007) and to serve as a model for various neurological disorders (Israel et al., 2012; Marchetto et al., 2011; Park et al., 2008; SanchezDanes et al., 2012).”
BackgroundEtienne, H., & Bertrand, B. (2016) · Human Genetics & Embryology · doi:10.4172/2161-0436.1000136 · Cited by 25
“This procedure was initially based on retroviral transfection of four embryonic transcription factors in somatic cells and its was quickly followed by successful reprogramming of human somatic healthy [2,3] and diseased [4,5] cells.”
BackgroundIm, I., Jang, M.-J., Park, S. J., Lee, S.-H., Choi, J.-H., Yoo, H., Kim, S., & Han, Y.-M. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.670364 · Cited by 27
“Recent work has suggested that disease modeling using induced pluripotent stem cells (iPSCs) is a promising method to understand the pathophysiology of genetic diseases in humans (17-23).”
BackgroundHiguchi, T., Kawagoe, S., Otsu, M., Shimada, Y., Kobayashi, H., Hirayama, R., Eto, K., Ida, H., Ohashi, T., Nakauchi, H., et al. (2014) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2014.02.012 · Cited by 29
Investigation of Rett syndrome using pluripotent stem cells
Dajani, R. B., Koo, S.-E., Sullivan, G. J., & Park, I. (2013) · Journal of Cellular Biochemistry · doi:10.1002/jcb.24597 · Cited by 29
“Because utility of pluripotent stem cells in cell therapy still has biosafety issues, the immediate impact of iPSCs will be in the arena of in vitro disease modeling [Dimos et al., 2008; Park et al., 2008a].”
BackgroundSelf-citationBioethics and the Future of Stem Cell Research
Hyun, I. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9780511816031 · Cited by 42
Kathawala, M. H., Xiong, S., Richards, M., Ng, K. W., George, S., & Loo, S. C. J. (2012) · Small · doi:10.1002/smll.201201452 · Cited by 30
Induced Pluripotent Stem Cells to Model and Treat Neurogenetic Disorders
Wang, H., & Doering, L. C. (2012) · Neural Plasticity · doi:10.1155/2012/346053 · Cited by 26
Efficient Culturing and Genetic Manipulation of Human Pluripotent Stem Cells
Schinzel, R., Ahfeldt, T., Lau, F., Lee, Y.-K., Cowley, A., Shen, T., Peters, D., Lum, D. H., & Cowan, C. (2011) · PLoS ONE · doi:10.1371/journal.pone.0027495 · Cited by 27
“human induced pluripotent stem cells [2–4], there has been increased interest in the use of hPSCs for a variety of applications.”
BackgroundSelf-citationFrom skin to the treatment of diseases – the possibilities of iPS cell research in dermatology
Gałach, M., & Utikal, J. (2011) · Experimental Dermatology · doi:10.1111/j.1600-0625.2011.01282.x · Cited by 27
Autologous cell therapy for cardiac repair
Davis, D. R., & Stewart, D. J. (2011) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.2011.556615 · Cited by 28
Nuclear Reprogramming Strategy Modulates Differentiation Potential of Induced Pluripotent Stem Cells
Martinez‐Fernandez, A., Nelson, T. J., & Terzic, A. (2011) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-010-9250-2 · Cited by 26
“iPS cells have been generated from both genetic and noninheritable diseases, including Parkinson’s disease, Duchenne muscular dystrophy, Becker’s muscular dystrophy, Down’s syndrome, Huntington’s disease [49], myeloproliferative disorders [50], amyotrophic lateral sclerosis [51], Fanconi’s anemia [52], type 1 diabetes…”
BackgroundFrom Single Genes to Gene Networks: High-Throughput-High-Content Screening for Neurological Disease
Jain, S., & Heutink, P. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.010 · Cited by 30
Clinical Potential of Adult Vascular Progenitor Cells
Kumar, A. H. S., & Caplice, N. (2010) · Arteriosclerosis, Thrombosis and Vascular Biology · doi:10.1161/atvbaha.109.198895 · Cited by 27
Farokhpour, M., Karbalaie, K., Tanhaei, S., Nematollahi, M., Etebari, M., Hamid, M., Nasr‐Esfahani, M. H., & Baharvand, H. (2009) · Toxicology in Vitro · doi:10.1016/j.tiv.2009.07.008 · Cited by 26
Disease Models from Pluripotent Stem Cells
Lengerke, C., & Daley, G. Q. (2009) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2009.04962.x · Cited by 27
Self-citationRepair of the CNS using endogenous and transplanted neural stem cells.
Trueman, R. C., Klein, A., Lindgren, H., Lelos, M. J., & Dunnett, S. (2013) · Current topics in behavioral neurosciences · doi:10.1007/7854_2012_223 · Cited by 27
“neuroprotective agents in the cell culture dish rather than using animals for research (Park et al. 2008; Soldner et al. 2009).”
BackgroundApplication of induced pluripotent stem cells to hematologic disease
Kim, P. G., & Daley, G. Q. (2009) · Cytotherapy · doi:10.3109/14653240903348319 · Cited by 23
Self-citationPhan, M. A. T., Madigan, M. C., Stapleton, F. J., Willcox, M. D. P., & Golebiowski, B. (2021) · The Ocular Surface · doi:10.1016/j.jtos.2021.11.012 · Cited by 29
Irmak, D., Fatima, A., Gutiérrez-García, R., Rinschen, M., Wagle, P., Altmuller, J., Arrigoni, L., Hummel, B., Klein, C., Frese, C., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy304 · Cited by 26
Application of hepatocyte-like cells to enhance hepatic safety risk assessment in drug discovery
Williams, D. P. (2018) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2017.0228 · Cited by 29
Induced pluripotent stem cell models of lysosomal storage disorders
Borger, D. K., McMahon, B., Lal, T. R., Serra‐Vinardell, J., Aflaki, E., & Sidransky, E. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.029009 · Cited by 34
“Schöndorf, D. C., Aureli, M., McAllister, F. E., Hindley, C. J., Mayer, F., Schmid, B., Sardi, S. P., Valsecchi, M., Hoffmann, S., Schwarz, L. K. et al. (2014). iPSCderived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis.”
MethodInfluentialDisease modelling using human iPSCs
Chamberlain, S. J. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw209 · Cited by 28
Mucci, A., Kunkiel, J., Suzuki, T., Brennig, S., Glage, S., Kühnel, M., Ackermann, M., Happle, C., Kuhn, A., Schambach, A., et al. (2016) · Stem Cell Reports · doi:10.1016/j.stemcr.2016.06.011 · Cited by 25
“This also applies to diseases caused by defects in progenitor or mature effector cells of the hematopoietic system, such as lymphocytes (ADA-SCID, X-SCID) (Menon et al., 2015; Park et al., 2008), granulocytes and myeloid progenitors (chronic granulomatous disease, juvenile myelomonocytic leukemia) (Gandre-Babbe et al.”
BackgroundRobinson, M., Yau, S.-Y., Sun, L., Gabers, N., Bibault, E., Christie, B., & Willerth, S. (2015) · Biomarker Insights · doi:10.4137/bmi.s20064 · Cited by 26
In vitro-differentiated neural cell cultures progress towards donor-identical brain tissue
Hjelm, B. E., Salhia, B., Kurdoglu, A. A., Szelinger, S., Reiman, R. A., Sue, L. I., Beach, T. G., Huentelman, M. J., & Craig, D. W. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt208 · Cited by 24
Epigenetics of induced pluripotency, the seven-headed dragon
Djuric, U., & Ellis, J. (2010) · Stem Cell Research & Therapy · doi:10.1186/scrt3 · Cited by 25
“In fact, iPS cell lines have been established from patients with multiple diseases, such as amyotrophic lateral sclerosis [41], familial dysautonomia [42], fanconi anemia [43], rett syndrome [10], spinal muscular atrophy [44] and a spectrum of other diseases [ 45 ].”
BackgroundApplication of iPSC to Modelling of Respiratory Diseases
Calvert, B. A., & Ryan, A. L. (2019) · Advances in experimental medicine and biology · doi:10.1007/5584_2019_430 · Cited by 37
Troncoso-Escudero, P., Sepúlveda, D., Pérez-Arancibia, R., Parra, A. V., Arcos, J., Grünenwald, F., & Vidal, R. L. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.571185 · Cited by 31
Modeling Polyglutamine Expansion Diseases with Induced Pluripotent Stem Cells
Naphade, S. B., Tshilenge, K., & Ellerby, L. (2019) · Neurotherapeutics · doi:10.1007/s13311-019-00810-8 · Cited by 30
Modern Genome Editing Technologies in Huntington’s Disease Research
Malankhanova, T. B., Malakhova, A. A., Medvedev, S. P., & Zakian, S. M. (2017) · Journal of Huntington s Disease · doi:10.3233/jhd-160222 · Cited by 34
“The first patient-specific iPSC line of HD containing 72 CAG repeats was obtained in 2008 by Park and colleagues [33] and since this publication, the number of HD patient-derived iPSC lines has been expanded [34].”
BackgroundGerami‐Naini, B., Smith, A., Maione, A. G., Kashpur, O., Carpinito, G., Veves, A., Mooney, D. J., & Garlick, J. A. (2016) · Cellular Reprogramming · doi:10.1089/cell.2015.0087 · Cited by 33
“…DFFs (iDFF), and NFFs (iNFF) was similar regardless of their patient background and revealed tight and flat colonies similar to what has been observed from human ES cells and iPSCs generated from other approaches (Lowry et al., 2008; Park et al., 2008; Takahashi et al., 2007; Thomson et al., 1998).”
ResultCanfield, S. G., Žaja, I., Godshaw, B. M., Twaroski, D. M., Bai, X., & Bosnjak, Z. J. (2016) · Anesthesia & Analgesia · doi:10.1213/ane.0000000000001254 · Cited by 23
Trevisan, M., Sinigaglia, A., Desole, G., Berto, A., Pacenti, M., Palù, G., & Barzon, L. (2015) · Viruses · doi:10.3390/v7072800 · Cited by 28
“Human iPSCs have been applied to the modeling of a variety of human diseases [25,26].”
Transcriptome Signature and Regulation in Human Somatic Cell Reprogramming
Tanaka, Y., Hysolli, E., Su, J., Xiang, Y., Kim, K., Zhong, M., Li, Y., Heydari, K., Euskirchen, G. M., Snyder, M. P., et al. (2015) · Stem Cell Reports · doi:10.1016/j.stemcr.2015.04.009 · Cited by 27
“Reprogramming technique offers tremendous potential for diseasemodeling, cell-based therapy, and drug screening (Park et al., 2008a).”
BackgroundMethodInfluentialSelf-citationWyles, S. P., Yamada, S., Oommen, S., Maleszewski, J. J., Beraldi, R., Martinez‐Fernandez, A., Terzic, A., & Nelson, T. J. (2014) · Stem Cells and Development · doi:10.1089/scd.2014.0259 · Cited by 25
“cell-based therapy that circumvents the ethical issues and immune rejection associated with human embryonic stem cell application [26,28,29].”
BackgroundConcise Review: Pluripotent Stem Cell-Based Regenerative Applications for Failing β-Cell Function
Holditch, S. J., Terzic, A., & Ikeda, Y. (2014) · Stem Cells Translational Medicine · doi:10.5966/sctm.2013-0184 · Cited by 23
Cellular reprogramming: a new approach to modelling Parkinson's disease
Hartfield, E. M., Fernandes, H. J. R., Vowles, J., Cowley, S. A., & Wade‐Martins, R. (2012) · Biochemical Society Transactions · doi:10.1042/bst20120159 · Cited by 23
Redefining Parkinson’s Disease Research Using Induced Pluripotent Stem Cells
Pu, J., Jiang, H., Zhang, B., & Feng, J. (2012) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-012-0288-1 · Cited by 22
“provided a new platform to study many human diseases (eg, PD, Huntington’s disease, and amyotrophic lateral sclerosis) [17, 18].”
BackgroundPluripotency of Induced Pluripotent Stem Cells
Kang, L., & Gao, S. (2012) · Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology · doi:10.1186/2049-1891-3-5 · Cited by 16
“The generation of iPS cells from individual patients has raised the hope of treatments for numerous degenerative and genetic diseases [4-11].”
A novel xeno-free and feeder-cell-free system for human pluripotent stem cell culture
Wang, Q., Mou, X., Cao, H.-H., Meng, Q., Ma, Y.-N., Han, P.-C., Jiang, J., Zhang, H., & Ma, Y. (2012) · Protein & Cell · doi:10.1007/s13238-012-2002-0 · Cited by 25
“Many gene-deficient diseasespecific iPSCs have been derived (Park et al., 2008; Lee et al., 2009; Ghodsizadeh et al., 2010; Somers et al., 2010), and disease phenotypes can be greatly ameliorated by transplantation of gene-corrected iPSC-differentiated cells (Hanna et al.”
BackgroundCapturing Alzheimer's disease genomes with induced pluripotent stem cells: prospects and challenges
Israel, M. A., & Goldstein, L. S. B. (2011) · Genome Medicine · doi:10.1186/gm265 · Cited by 23
“Multiple research groups have reported the generation of iPSCs from PD patients [60, 66 ,67], but until recently, it was unclear if differen tiated PD iPSCs displayed disease phenotypes.”
BackgroundХоруженко, А. І. (2011) · Biopolymers and Cell · doi:10.7124/bc.00007d · Cited by 21
Stem cell therapies for recessive dystrophic epidermolysis bullosa
Petrova, A., Ilić, D., & McGrath, J. A. (2010) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2010.09981.x · Cited by 24
Generation and genetic modification of induced pluripotent stem cells
Schambach, A., Cantz, T., Baum, C., & Cathomen, T. (2010) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.2010.496775 · Cited by 22
“After the initial reports that human iPSCs can be generated [10,11], in further work Park and colleagues have generated the first patient-specific human iPSC lines [86] for a number of diseases, including adenosine deaminase--severe combined immunodeficiency (ADA-SCID), Parkinson’s disease and Huntington disease.”
BackgroundCancer stem cell genomics: the quest for early markers of malignant progression
Okamoto, O. (2009) · Expert Review of Molecular Diagnostics · doi:10.1586/erm.09.40 · Cited by 25
Human stem cells for modeling neurological disorders: Accelerating the drug discovery pipeline
Crook, J., & Kobayashi, N. R. (2008) · Journal of Cellular Biochemistry · doi:10.1002/jcb.21967 · Cited by 25
“A more recent report of disease-specific iPS cells describes the generation of lines from patients with a variety of diseases with either Mendelian or complex inheritance, including Down syndrome, Gaucher disease type III, Parkinson disease, and Huntington disease [Park et al., 2008a].”
BackgroundNarkar, A., Willard, J. M., & Blinova, K. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23063199 · Cited by 27
Induced Pluripotency: A Powerful Tool for In Vitro Modeling
Záhumenská, R., Nosáľ, V., Smolár, M., Okajčeková, T., Škovierová, H., Strnádel, J., & Halášová, E. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21238910 · Cited by 34
“From the beginning, it has been assumed that the use of iPSCs is moving towards two different pathways: first as a tool for regenerative medicine and clinical practice [26] and, second, as a tool for disease modeling and drug screening [27].”
BackgroundStem cell models as an in vitro model for predictive toxicology
Lynch, S., Pridgeon, C. S., Duckworth, C. A., Sharma, P., Park, B. K., & Goldring, C. E. (2019) · Biochemical Journal · doi:10.1042/bcj20170780 · Cited by 30
Chau, M. J., Deveau, T. C., Song, M., Wei, Z. Z., Gu, X., Yu, S. P., & Wei, L. (2017) · Oncotarget · doi:10.18632/oncotarget.22180 · Cited by 27
Genome engineering tools for building cellular models of disease
Lin, J. J., & Musunuru, K. (2016) · FEBS Journal · doi:10.1111/febs.13763 · Cited by 23
McGivern, J. V., & Ebert, A. D. (2013) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2013.11.012 · Cited by 29
de Peppo, G. M., & Marolt, D. (2012) · Journal of Blood Transfusion · doi:10.1155/2012/317632 · Cited by 23
“including Alzheimer’s disease [80], Parkinson’s disease [81], schizophrenia [82], diabetes [83], Gaucher’s disease [84], and muscular dystrophy [84] is ongoing and expected to significantly affect our understanding of a variety of medical conditions.”
BackgroundStem Cells in Drug Screening for Neurodegenerative Disease
Kim, H., & Jin, C. Y. (2012) · Korean Journal of Physiology and Pharmacology · doi:10.4196/kjpp.2012.16.1.1 · Cited by 24
“Furthermore iPSCs were generated from fibroblasts taken from patients suffering from neurodegenerative diseases [52,53,113].”
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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