TitleGeneration 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).
Publication TypeJournal Article
Year of Publication2023
AuthorsGopurappilly R, Musthafa T, Sukumaran S, Viswanath B, Hasan G
JournalStem Cell Res
Volume67
Pagination103033
Date Published2023 Jan 24
ISSN1876-7753
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.

DOI10.1016/j.scr.2023.103033
Alternate JournalStem Cell Res
PubMed ID36706537