Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7

Stem Cell Res. 2021 Mar:51:102175. doi: 10.1016/j.scr.2021.102175. Epub 2021 Jan 13.

Abstract

PARK7 mutations are accountable for the inherited Parkinson's disease. An induced pluripotent stem cell (iPSC) line FJMUUHi001-A was generated by expressing five reprogramming factors, OCT3/4, SOX2, c-MYC, KLF4 and BCL-XL, in peripheral blood mononuclear cells from a 32-year old patient carrying a homozygous mutation of c.189dupA in PARK7. The iPSCs with a normal karyotype had the abilities to differentiate into three germ layers and expressed pluripotency markers without detectable residual plasmids. The cell line FJMUUHi001-A carrying the truncating protein PARK7 could be a useful tool to help comprehend the function of PARK7 in the iPSCs and differentiated cells from them.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Leukocytes, Mononuclear
  • Mutation / genetics
  • Parkinson Disease* / genetics
  • Protein Deglycase DJ-1

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • PARK7 protein, human
  • Protein Deglycase DJ-1