Generation of a human iPSC line (CIBi013-A) from a patient with young-onset Parkinson's disease carrying a novel homozygous PARK7 (DJ-1) mutation

Stem Cell Res. 2023 Feb:66:102983. doi: 10.1016/j.scr.2022.102983. Epub 2022 Nov 24.

Abstract

Mutations in PARK7 and the resulting alterations in its production protein (DJ-1) are tightly associated with Parkinson's disease. We generated a human induced pluripotent stem cell (iPSC) line (CIBi013-A) from a patient with young-onset Parkinson's disease (YOPD) who carried a novel homozygous PARK7 (DJ-1) mutation (chr1:8037723, c.334C>G). The generated iPSCs will be used for investigating phenotype and underlying molecular mechanisms in patient-derived cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation / genetics
  • Parkinson Disease* / genetics
  • Parkinson Disease* / metabolism
  • Protein Deglycase DJ-1 / genetics

Substances

  • PARK7 protein, human
  • Protein Deglycase DJ-1

Supplementary concepts

  • Parkinson Disease 7, Autosomal Recessive Early-Onset