Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6.

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 elucidating the mechanism underlying SCA6 pathogenesis, drug testing, and gene therapy. Du and Gomez C, 2018, McGrath et al., 2018, Wang et al., 2019