Generation of two induced pluripotent stem cell lines, GZHMCi009-A and GZHMCi010-A, derived from peripheral blood mononuclear cells of two SCA3 patients with 14/74 CAG repeats of the ATXN3 mutation.
Stem Cell Res
; 61: 102782, 2022 05.
Article
en En
| MEDLINE
| ID: mdl-35421843
Spinal cerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the result of abnormal repeat amplification of CAG of the ATXN3 gene. It is one of the main types of autosomal dominant ataxia, with motor symptoms of cerebellar ataxia, mainly accompanied by non-motor symptoms, such as ocular symptoms, psychiatric symptoms, and nutritional disorders. Currently, no effective treatment is available for patients with SCA3. The construction of induced pluripotent stem cells (iPSCs) from two SCA3 patients (14/74 CAG repeats) will be an excellent tool for studying SCA3 disease mechanisms and for drug screening.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia Cerebelosa
/
Células Madre Pluripotentes Inducidas
Límite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2022
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
Reino Unido