Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.
Stem Cell Res
; 79: 103472, 2024 Sep.
Article
em En
| MEDLINE
| ID: mdl-38889632
ABSTRACT
Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhancing protein 1 (REEP1) gene. Over 80 genes have been associated with HSPs, and the list is constantly growing as research progresses. This study is aimed to create a patient-derived human induced pluripotent stem cell (hiPSC) line with a specific nonsense mutation to better characterize the etiopathogenesis of the disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Células-Tronco Pluripotentes Induzidas
/
Fibroblastos
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Heterozigoto
Limite:
Humans
/
Male
Idioma:
En
Revista:
Stem Cell Res
/
Stem cell research (Online)
Ano de publicação:
2024
Tipo de documento:
Article