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
en 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
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxias Espinocerebelosas
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Células Madre Pluripotentes Inducidas
Límite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article