Generation of induced pluripotent stem cell line (ZZUi0021-A) from a patient with spinocerebellar ataxia type 19
Summary
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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Liu F, Fan Y, Fan L, Li M, Zhang Q, Mao C, Wu J, Zhang S, Hu Z, Shi C, Xu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102320 |
| PubMed | 34087979 |
| DOI | 10.1016/j.scr.2021.102320 |