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)
Summary
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. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Banerjee R, Ghanty R, Holla V, Kamble N, Yadav R, Pal PK, Datta I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Apr;92:103928 |
| PubMed | 41719744 |
| DOI | 10.1016/j.scr.2026.103928 |