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Stem Cell Res ; 73: 103211, 2023 12.
Article in English | MEDLINE | ID: mdl-37890334

ABSTRACT

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 displays typical human primed iPSC morphology and expression of pluripotency-associated markers, normal karyotype without SNP array-detectable copy number variations and can give rise to derivatives of all three embryonic germ layers. We envisage the usefulness of this iPSC line, carrying a common and well-studied missense mutation in the RING1 domain of the PARKIN protein, for the elucidation of PARKIN-dependent mechanisms of PD using in vitro and in vivo models.


Subject(s)
Induced Pluripotent Stem Cells , Parkinson Disease , Humans , Male , Induced Pluripotent Stem Cells/metabolism , Parkinson Disease/genetics , Parkinson Disease/metabolism , DNA Copy Number Variations , Mutation/genetics , Ubiquitin-Protein Ligases/genetics , Ubiquitin-Protein Ligases/metabolism
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