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Title

Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease

Authors
Burda, Patricie
Baumgartner, Matthias
Táncos, Zsuzsanna
Kobolák, Julianna
Dinnyés, András
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Published in Stem Cell Research. 2019, vol. 41, p. 101604
Abstract Mucopolysaccharidosis type I-Hurler (MPS1-H) is the most severe form of inherited metabolic diseases caused by mutations in the IDUA gene. The resulting deficiency of alpha L-iduronidase enzyme leads to a progressive accumulation of glycosaminoglycans in lysosomes which damages multiple organs and highly reduces life expectancy of affected children. Skin fibroblasts of a 2-year-old MPS1-H male, carrying two mutations in each IDUA alleles (H358_T364del; W402X), were reprogrammed into induced pluripotent stem cells (iPSCs) using the CytoTune-iPS Sendai Reprogramming method applying Yamanaka-factors (OCT4, SOX2, KLF4, c-MYC). iPSCs expressed pluripotency transcription factors while iPSC-derived embryoid bodies reveal markers of the three germ layers.
Keywords Pluripotent stem cellsMucopolysaccharidosis type IH
Identifiers
PMID: 31678774
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Article (Published version) (1.7 MB) - public document Free access
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Research group Radicaux libres et cellules souches embryonnaires (60)
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LITO, Silvin et al. Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease. In: Stem Cell Research, 2019, vol. 41, p. 101604. doi: 10.1016/j.scr.2019.101604 https://archive-ouverte.unige.ch/unige:125806

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Deposited on : 2019-11-08

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