A human induced pluripotent stem cell line (TRNDi007-B) from an infantile onset Pompe patient carrying p.R854X mutation in the GAA gene

Stem Cell Res. 2019 May:37:101435. doi: 10.1016/j.scr.2019.101435. Epub 2019 Apr 11.

Abstract

Pompe disease is an autosomal inherent genetic disease caused by mutations in the GAA gene that encodes acid alpha-glucosidase. The disease affects patients in heart, skeletal muscles, liver, and central nervous system. A human induced pluripotent stem cell (iPSC) line was generated from the skin dermal fibroblasts of a Pompe patient with homozygosity for a c.2560C > T (p.R854X) mutation in exon 18 of the GAA gene. This human iPSC line provides a useful resource for disease modeling and drug discovery.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Age of Onset
  • Animals
  • Cell Differentiation*
  • Cells, Cultured
  • Cellular Reprogramming
  • Fibroblasts / metabolism
  • Fibroblasts / pathology*
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / pathology
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Infant
  • Male
  • Mice
  • Mice, Inbred NOD
  • Mice, SCID
  • Mutation*
  • Phenotype
  • Teratoma / etiology*
  • Teratoma / pathology
  • alpha-Glucosidases / genetics*

Substances

  • GAA protein, human
  • alpha-Glucosidases