Stem Cell Research ( IF 0.8 ) Pub Date : 2020-03-19 , DOI: 10.1016/j.scr.2020.101777 Ting Yang 1 , Jie Qin 1 , Qi Zhang 1 , Huifang Sun 1 , Zhuoya Wang 1 , Jing Yang 1 , Han Liu 1 , Chan Zhang 1 , Shoutao Zhang 2 , Jin Zhang 3 , Yanlin Wang 1 , Yuming Xu 1
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
中文翻译：
从患有6型脊髓小脑共济失调的患者中产生诱导性多能干细胞系（ZZUi0018-A）。
脊髓小脑性共济失调6型（SCA6）是常染色体显性遗传性疾病，由CACNA1A基因中的重复CAG扩增引起。SCA6尚无特效治疗方法，目前使用的治疗方法主要是对症治疗。使用表达OCT3 / 4，SOX2，KLF4，LIN28和1- MYC的附加型质粒，将来自SCA6患者的成纤维细胞成功转化为诱导性多能干细胞（iPSC）。我们的方法为进一步研究阐明SCA6发病机理，药物测试和基因治疗的机制提供了平台。Du and Gomez C，2018，McGrath等人，2018，Wang等人，2019
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