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


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. Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Lito S, Burda P, Baumgartner M, Sloan-Béna F, Táncos Z, Kobolák J, Dinnyés A, Krause KH, Marteyn A
Journal Stem cell research
Publication Date 2019 Dec;41:101604
PubMed 31678774
DOI 10.1016/j.scr.2019.101604

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