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

• Published in: Stem cell research 2022-05, Vol.61, p.102782-102782, Article 102782
• Main Authors: Yinghong, Yang, Qian, Luo, Bing, Song, Yingjun, Xie, Wenzhi, He, Bangzhu, Chen, Xiaofang, Sun
• Format: Article
• Language: English
• Subjects: Ataxin-3 - genetics; Ataxin-3 - metabolism; Cerebellar Ataxia - metabolism; Humans; Induced Pluripotent Stem Cells - metabolism; Leukocytes, Mononuclear - metabolism; Mutation - genetics; Repressor Proteins - genetics; Repressor Proteins - metabolism
• ISSN: 1873-5061; 1876-7753
• DOI: 10.1016/j.scr.2022.102782

•SCA3 is the result of abnormal repeat amplification of CAG of the ATXN3 gene.•Generation of iPSCs from PBMCs donated by SCA3 patients with ATXN3 mutation.•The established iPSCs are valuable resources for understanding the pathogenesis of SCA3, gene therapy, and drug screening. 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.