Article
Generation of the iPSC line FINi002-A from a male Parkinson's disease patient carrying compound heterozygous mutations in the PRKN gene.
Stem cell research - 1 Dec 2023
Pavan C, Jin J, Jong S, Strbenac D, Davis R L, Sue C M, Johnston J, Lynch T, Halliday G, Kirik D, Parish C L, Thompson L H, Ovchinnikov D A
Abstract excerpt
The most common cause of autosomal recessive familial Parkinson's disease (PD) are mutations in the PRKN/PARK2 gene encoding an E3 ubiquitin protein-ligase PARKIN. We report the generation of an iPSC cell line from the fibroblasts of a male PD patient carrying a common missense variant in exon 7 (p.Arg275Trp), and a 133 kb deletion encompassing exon 8, using transiently-present Sendai virus. The established line...
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