Generation of induced pluripotent stem cell line (ZZUi004-A) from urine sample of a patient with spinocerebellar ataxia type 3
Generation of induced pluripotent stem cell line (ZZUi004-A) from urine sample of a patient with spinocerebellar ataxia type 3
复制标题
从 3 型脊髓小脑共济失调患者的尿液样本中生成诱导多能干细胞系 (ZZUi004-A)
DOI：
10.1016/j.scr.2018.01.027
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发表时间：
2018
影响因子：
1.2
通讯作者：
Xuejun Wen
中科院分区：
文献类型：
--
作者：
Yanlin Wang;Changhe Shi;Zhilei Wang;Huifang Sun;Zhihua Yang;Fan Zhang;Yutao Liu;Han Liu;Chenyang Jiang;Shoutao Zhang;Yuming Xu;Xuejun Wen
脊髓小脑型共济失调3型(SCA3)是一种遗传性神经退行性疾病，由ATXN3基因区域CAG重复扩增引起。SCA3的主要特征是进行性共济失调，影响平衡、步态和言语。利用仙台病毒传递系统，成功地将一名SCA3患者的尿细胞(UC)转化为诱导多能干细胞(IPSCs)。ZZUi004-A细胞株可能为进一步研究SCA3的发病机制以及药物检测和基因治疗研究提供一个强大的平台。
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG repeat expansion in the region of theATXN3gene. The main feature of SCA3 is progressive ataxia, which affects balance, gait, and speech. Urine cells (UCs) of a SCA3 patient were successfully translated to induced pluripotent stem cells (iPSCs) by using the Sendai virus delivery system. ZZUi004-A cell line may provide a robust platform for further study of SCA3 pathogenesis as well as drug testing and gene therapy research.