Generation of human induced pluripotent stem cell lines (LUMCi051-A,B and LUMCi052-A,B,C) of two patients with Spinocerebellar ataxia type 7.
Stem Cell Res
; 78: 103462, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-38851031
ABSTRACT
Spinocerebellar Ataxia Type 7 (SCA7) is an autosomal dominantly inherited disorder, primarily characterized by cerebellar ataxia and visual loss. SCA7 is caused by a CAG repeat expansion in exon 3 of the ATXN7 gene. We generated human induced pluripotent stem cells (hiPSCs) from peripheral blood-derived erythroblasts from two SCA7 patients (LUMCi051-A,B and LUMCi052-A,B,C) using integration-free episomal vectors. All hiPSC clones express pluripotency factors, show a normal karyotype, and can differentiate into the three germ layers. These lines can be used for in vitro disease modeling and therapy testing.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Ataxias Espinocerebelares
/
Células-Tronco Pluripotentes Induzidas
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article