Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6
Ting Yang, Jie Qin, Qi Zhang, Huifang Sun, Zhuoya Wang, Jing Yang, Han Liu, Chan Zhang, Shoutao Zhang, Jin Zhang, Yanlin Wang, Yuming Xu
Abstract
Spinocerebellar ataxia type 19 (SCA19) is an extremely rare autosomal dominant cerebellar ataxia hereditary that caused by the KCND3 gene mutation. And has a complex pathogenesis. At present, its pathogenesis is still unclear, and there is no effective treatment for SCA19. So, to study its pathogenesis and find effective treatments, we collected the fifibroblasts from a patient with SCA19, then successfully transformed the fifibroblasts into induced pluripotent stem cells (iPSCs) and construct a SCA19 pathological cell mode. This study provides a basis for elucidating its pathogenesis and providing new treatment options.