Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Stem Cell Res. 2019 Mar:35:101336. doi: 10.1016/j.scr.2018.10.021. Epub 2018 Nov 18.

Abstract

Gaucher disease is the most common autosomal recessive lysosomal storage disorder, caused by mutations in the β-glucocerebrosidase gene GBA. Here we describe generation of iPSC from skin-derived fibroblasts from two unrelated individuals with neuronopathic forms of Gaucher disease. The donor for line iPSC-GBA-1, a 21 month old girl, carried the recurring GBA mutation c.1448 T > C, p.Leu483Pro at homozygous state; fibroblasts for line iPS-GBA-2 were obtained from a 4 year old girl compound heterozygous for the GBA mutations c.667 T > C, p.Trp223Arg and c.1226A > G, p.Asn409Ser. iPSCs were developed using integration free episomal vectors (OCT4, KLF4; L-MYC, SOX2 (OSKM) and LIN28). Resource table.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cell Line*
  • Child, Preschool
  • Female
  • Gaucher Disease / genetics
  • Gaucher Disease / metabolism*
  • Gaucher Disease / pathology
  • Glucosylceramidase / metabolism
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Induced Pluripotent Stem Cells / pathology
  • Infant
  • Kruppel-Like Factor 4
  • Mutation

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Glucosylceramidase