Generation of an induced pluripotent stem cell line (GIBHi003-A) from a Parkinson's disease patient with mutant PINK1 (p. I368N)

Stem Cell Res. 2019 Dec;41:101607. doi: 10.1016/j.scr.2019.101607. Epub 2019 Oct 15.

Abstract

Familial Parkinson's disease (PD) can be caused by deleterious mutations in PINK1 (encoding PINK1) in an autosomal recessive manner. Functional studies suggest that PINK1 works as a regulator of mitochondrial homeostasis. However, how loss of PINK1 induces dopaminergic neuron degeneration is still unclear. Here, we have generated a patient-derived induced pluripotent stem cell (iPSC) line with mutant PINK1 (p. I368N). This cell line will facilitate PD disease modeling in vitro and can be used for generating isogenic cell lines through gene correction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation*
  • Cells, Cultured
  • Fibroblasts / metabolism
  • Fibroblasts / pathology*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Male
  • Middle Aged
  • Mutation*
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology*
  • Protein Kinases / genetics*

Substances

  • Protein Kinases
  • PTEN-induced putative kinase