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Stem Cell Res ; 73: 103211, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37890334

RESUMO

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.


Assuntos
Células-Tronco Pluripotentes Induzidas , Doença de Parkinson , Humanos , Masculino , Células-Tronco Pluripotentes Induzidas/metabolismo , Doença de Parkinson/genética , Doença de Parkinson/metabolismo , Variações do Número de Cópias de DNA , Mutação/genética , Ubiquitina-Proteína Ligases/genética , Ubiquitina-Proteína Ligases/metabolismo
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