Generation of a PARK2 homozygous knockout induced pluripotent stem cell line (GIBHi002-A-1) with two common isoforms abolished

Stem Cell Res. 2019 Dec:41:101602. doi: 10.1016/j.scr.2019.101602. Epub 2019 Oct 15.

Abstract

Loss of function mutations in PARK2 (encoding PARKIN) cause autosomal recessive Parkinson's disease (PD), which often manifests at a juvenile age. Molecular and biochemical studies show that PARKIN functions as an E3 ubiquitin ligase controlling mitochondrial homeostasis. Yet, the exact mechanisms are unclear due to the use of sub-optimal models including cancer cells and fibroblasts. We have generated a PARK2 knockout (KO) isogenic cell line using a well-characterized induced pluripotent stem cell (iPSC) clone with good differentiation potential. This cell line lacks the expression of all PARKIN isoforms and is valuable for elucidating the role of PARK2 mutations in PD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Differentiation*
  • Cells, Cultured
  • Female
  • Frameshift Mutation*
  • Homozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Kidney Tubules / metabolism
  • Kidney Tubules / pathology*
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology*
  • Protein Isoforms
  • Ubiquitin-Protein Ligases / genetics*
  • Young Adult

Substances

  • Protein Isoforms
  • Ubiquitin-Protein Ligases
  • parkin protein