Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson's disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A)

Stem Cell Res. 2023 Mar:67:103033. doi: 10.1016/j.scr.2023.103033. Epub 2023 Jan 24.

Abstract

Phospholipase A2 group 6 (PLA2G6, iPLA2β or PARK14) gene encodes a calcium-independent group 6 phospholipase A2 enzyme and is associated with young-onset autosomal recessive Parkinson's disease (PD). We generated human induced pluripotent stem cell (iPSC) lines from a patient with young-onset PD carrying a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A). These iPSC lines will be used for investigating the key molecular signatures of young-onset PD (YOPD), and to understand the predictive phenotypes of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Group VI Phospholipases A2 / genetics
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation
  • Parkinson Disease* / genetics
  • Parkinsonian Disorders* / genetics
  • Transgenes

Substances

  • PLA2G6 protein, human
  • Group VI Phospholipases A2