Generation and characterization of a genetic Parkinson's disease-patient derived iPSC line DJ-1-delP (LCSBi008-A)

Stem Cell Res. 2022 Jul:62:102792. doi: 10.1016/j.scr.2022.102792. Epub 2022 Apr 26.

Abstract

Here, we describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a monogenic Parkinson's disease (PD) patient. The disease was caused by a c.634-636delGCC mutation in the PARK7 gene leading to p.158P deletion in the protein DJ-1. iPSCs were generated via electroporation using three episomal plasmids encoding human Oct3/4, Sox2, Klf4, Lin28, L-Myc combined with a short hairpin RNA for p53. The presence of the c.471_473delGCC mutation in exon 7 of PARK7 was confirmed by Sanger sequencing. The iPSCs express pluripotency markers, are capable of in vitro differentiation into the three germ layers and obtain karyotypic integrity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Fibroblasts / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation / genetics
  • Parkinson Disease* / genetics
  • Parkinson Disease* / metabolism
  • Transcription Factors / genetics

Substances

  • Transcription Factors