Generation of three induced pluripotent stem cell lines from a Parkinson's disease patient with mutant PARKIN (p. C253Y).
Stem Cell Res
; 45: 101822, 2020 05.
Article
em En
| MEDLINE
| ID: mdl-32387897
ABSTRACT
Parkinson's disease (PD) is one of the most common neurodegenerative disorders and is characterized by the progressive degeneration of dopaminergic (DA) neurons in the substantia nigra. Loss of function mutations in PARK2 cause familial PD in an autosomal recessive manner. PARK2 encodes an E3 ubiquitin ligase that is involved in regulation of mitochondrial homeostasis. However, the mechanistic links between PARK2 mutations and dopaminergic neuron degeneration are unclear. Here, we have generated three patient-derived induced pluripotent stem cell (iPSC) lines from the same donor with mutant PARKIN (p. C253Y). These well characterized cell lines will facilitate the study of PARKIN function in disease relevant cell types in vitro.
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Bases de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Transtornos Parkinsonianos
/
Células-Tronco Pluripotentes Induzidas
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2020
Tipo de documento:
Article