Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6
Generation of induced pluripotent stem cell line (ZZUi0018-A ) from a patient with spinocerebellar ataxia type 6
复制标题
从 6 型脊髓小脑共济失调患者中产生诱导多能干细胞系 (ZZUi0018-A)
DOI：
10.1016/j.scr.2020.101777
复制
发表时间：
2020
影响因子：
1.2
通讯作者：
Xu Yuming
中科院分区：
文献类型：
--
作者：
Yang Ting;Qin Jie;Zhang Qi;Sun Huifang;Wang Zhuoya;Yang Jing;Liu Han;Zhang Chan;Zhang Shoutao;Zhang Jin;Wang Yanlin;Xu Yuming
脊髓小脑性共济失调 6 型 (SCA6) 是一种常染色体显性遗传性疾病，由 CACNA1A 基因重复 CAG 扩增引起。 SCA6尚无特效治疗方法，目前主要是对症治疗。使用表达 OCT3/4、SOX2、KLF4、LIN28 和 I-MYC 的附加型质粒，将 SCA6 患者的成纤维细胞成功转化为诱导多能干细胞 (iPSC)。我们的方法为进一步研究阐明 SCA6 发病机制、药物测试和基因治疗提供了平台。 Du 和 Gomez C，2018；McGrath 等人，2018；Wang 等人，2019
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, andl-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