Generation of two induced pluripotent stem cell lines with heterozygous and homozygous amyotrophic lateral sclerosis-causing mutation P525L (c.1574C > T) in FUS gene.
Stem Cell Res
; 69: 103103, 2023 06.
Article
em En
| MEDLINE
| ID: mdl-37116345
ABSTRACT
Mutations in the FUS (fused in sarcoma) gene are implicated in the neurodegenerative disease amyotrophic lateral sclerosis (ALS). However, the pathophysiology underlying these mutations remains elusive. In this study, we created two induced pluripotent stem cell (iPSC) lines through genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). These iPSC lines carry the heterozygous and homozygous P525L (c.1574C > T) mutation in the FUS gene. We confirmed that both cell lines possess typical stem cell morphology, normal karyotype, and pluripotency. Our iPSC lines offer a valuable resource for investigating the pathological mechanisms underlying the FUS mutation P525L in ALS.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Neurodegenerativas
/
Células-Tronco Pluripotentes Induzidas
/
Esclerose Lateral Amiotrófica
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos