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

Stem Cell Res. 2019 Dec:41:101604. doi: 10.1016/j.scr.2019.101604. Epub 2019 Oct 15.

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.

MeSH terms

  • Cell Differentiation*
  • Cells, Cultured
  • Cellular Reprogramming
  • Child, Preschool
  • Embryoid Bodies / metabolism
  • Embryoid Bodies / pathology
  • Fibroblasts / metabolism
  • Fibroblasts / pathology*
  • Humans
  • Iduronidase / genetics*
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Kruppel-Like Factor 4
  • Male
  • Mucopolysaccharidosis I / genetics*
  • Mucopolysaccharidosis I / pathology*
  • Mutation*

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • IDUA protein, human
  • Iduronidase