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

Published inStem Cell Research, vol. 41, 101604
Publication date2019
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 cells
  • Mucopolysaccharidosis type IH
Citation (ISO format)
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
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ISSN of the journal1873-5061
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Technical informations

Creation11/06/2019 4:58:00 PM
First validation11/06/2019 4:58:00 PM
Update time03/15/2023 6:18:35 PM
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