Human induced pluripotent stem cells line (PNUSCRi002-A) from a patient with Parkinson's disease carrying a R159W mutation in the GBA gene

Stem Cell Res. 2022 Dec:65:102948. doi: 10.1016/j.scr.2022.102948. Epub 2022 Oct 17.

Abstract

Mutation in the glucocerebrosidase encoding gene 1 (GBA) is one of the most frequent causes of Parkinson's disease (PD). Herein, we obtained peripheral blood mononuclear cells (PBMCs) from a patient with PD with a heterozygous c.475C > T (p.R159W) mutation in the GBA gene, and generated an induced pluripotent stem cell (iPSC) line (GBA PD9 or PNUSCRi002-A hiPSCs) using a non-integrative Sendai virus. The iPSC line expressed pluripotency markers (OCT4, NANOG, SSEA-4, TRA-1-60) and displayed differentiation properties in the three germ layers (ectoderm, endoderm, and mesoderm). Additionally, the patient had a normal karyotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Glucosylceramidase* / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear
  • Mutation / genetics
  • Parkinson Disease* / genetics

Substances

  • GBA protein, human
  • Glucosylceramidase