| Literature DB >> 34087979 |
Fen Liu1, Yu Fan1, Liyuan Fan1, Mengjie Li1, Qimeng Zhang1, Chengyuan Mao1, Jun Wu1, Shuo Zhang1, Zhengwei Hu1, Changhe Shi2, Yuming Xu3.
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.Entities:
Year: 2021 PMID: 34087979 DOI: 10.1016/j.scr.2021.102320
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 2.020