脊髓小脑共济失调
发病机制
生物
诱导多能干细胞
KLF4公司
共济失调
突变
SOX2
遗传学
免疫学
基因
神经科学
胚胎干细胞
作者
Fen Liu,Yu Fan,Liyuan Fan,Mengjie Li,Qimeng Zhang,Chengyuan Mao,Jun Wu,Shuo Zhang,Zhengwei Hu,Changhe Shi,Yuming Xu
标识
DOI:10.1016/j.scr.2021.102320
摘要
• We obtained dermal fbroblasts from the patient and transduced successfully with Sendai viruses, encoding OCT4, SOX2, KLF4 and c-myc. • Spinocerebellar ataxia type 19 is an rare autosomal dominant cerebellar ataxia hereditary that caused by the KCND3 gene mutation. • The cell line (ZZUi0021-A) provides an ideal cell model for elucidating SCA19 pathogenesis. 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.
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