Generation of an induced pluripotent stem cell line (GIBHi004-A) from a Parkinson's disease patient with mutant DJ-1/PARK7 (p.L10P)

Stem Cell Res. 2020 Jul:46:101845. doi: 10.1016/j.scr.2020.101845. Epub 2020 May 27.

Abstract

Mutations occurring in the gene body of PARK7 (encoding DJ-1/PARK7) cause autosomal recessive early-onset parkinsonism (AREP). These mutations produce a loss of function and have been reported to lead to dopaminergic neuron degeneration in the substantia nigra. However, the underlying mechanisms are largely unknown. Here, we report the generation of a patient-derived induced pluripotent stem cell (iPSC) line carrying mutant DJ-1 (p.L10P). This cell line is a valuable tool for in vitro Parkinson's disease (PD) modeling and mechanistic studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Dopamine
  • Dopaminergic Neurons
  • Humans
  • Induced Pluripotent Stem Cells*
  • Parkinson Disease* / genetics
  • Protein Deglycase DJ-1 / genetics
  • Substantia Nigra

Substances

  • PARK7 protein, human
  • Protein Deglycase DJ-1
  • Dopamine