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
2020 Stem Cell Research  
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant hereditary disease caused by repeated CAG amplification in the CACNA1A gene. There is no specific treatment for SCA6, and the currently administered treatment is mainly symptomatic. The fibroblasts from a patient with SCA6 were successfully transformed into induced pluripotent stem cells (iPSCs), employing episomal plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and l-MYC. Our method provides a platform for further studies on
more » ... studies on elucidating the mechanism underlying SCA6 pathogenesis, drug testing, and gene therapy. Du and Gomez C, 2018; McGrath et al., 2018; Wang et al., 2019.
doi:10.1016/j.scr.2020.101777 pmid:32229428 fatcat:baef3l6rorczpevcgxdb3wt72e