Work

Generation of induced pluripotent stem cells (NIMHi027-A) from a Parkinson’s disease patient harbouring a homozygous missense mutation for PLA2G6 gene (chr22:g.38112558C > T)

Year: 2026

Type: article

Abstract: A missense mutation in the PLA2G6 gene (chr22:g.38112558C > T) resulting in p.Arg741Gln substitution is implicated in young-onset Parkinson disease (YOPD), which presents with early motor symptoms clinically indistinguishable from other PD etiologies. Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells of a PLA2G6 p.Arg741Gln patient with UPDRS-confirmed PD diagnosis using Sendai virus reprogramming technology. Complete characterization validated self-renewal capacity and pluripotency markers. This patient-derived iPSC line represents a valuable cellular model for mechanistic studies and drug discovery efforts targeting PLA2G6-associated Parkinsonism.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.103928