Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations

Stem Cell Res. 2019 Aug:39:101519. doi: 10.1016/j.scr.2019.101519. Epub 2019 Aug 2.

Abstract

We describe the generation and characterization of hiPSC lines of one type 1-Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients heterozygous for GBA mutations. Human iPSCs were derived from lymphocytes reprogrammed with Sendai virus carrying the reprogramming factors OCT3/4, SOX2, KLF4 and MYC. The hiPSC lines were characterized according to established criteria, and retained the original GBA mutations found in the respective patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cells, Cultured
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Fluorescent Antibody Technique
  • Gaucher Disease / metabolism*
  • Genomic Instability / physiology
  • Glucosylceramidase / genetics
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism*
  • Kruppel-Like Factor 4
  • Mutation / genetics
  • Parkinson Disease / metabolism*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

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