Generation of induced pluripotent stem cell line LNDWCHi001-A from a patient with early-onset Parkinson's disease carrying the homozygous c.1898C > T (p. A633V) mutation in the PLA2G6 gene

Stem Cell Res. 2024 Mar:75:103305. doi: 10.1016/j.scr.2024.103305. Epub 2024 Jan 8.

Abstract

A variant of the phospholipase A2 group VI gene (PLA2G6, PARK14) has been found to cause early-onset Parkinson's disease (EOPD). In this study, we reprogrammed peripheral blood mononuclear cells from a 39-year-old patient with EOPD carrying a homozygous PLA2G6 mutation c.1898C > T (p. A633V) to generate the human induced pluripotent stem cell line LNDWCHi001-A. This cell line was identified based on pluripotent markers and displayed differentiation capacity, providing an essential model for studying the pathogenesis of EOPD and drug screening.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Group VI Phospholipases A2 / genetics
  • Group VI Phospholipases A2 / metabolism
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Mutation / genetics
  • Parkinson Disease* / pathology
  • Parkinsonian Disorders* / genetics

Substances

  • PLA2G6 protein, human
  • Group VI Phospholipases A2