The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China; Henan Key Laboratory of Neurorestoratology, The First Affiliated Hospital of Xinxiang Medical College, Xinxiang, Henan 453000, China.
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Stem Cell Res. 2021 May;53:102205. doi: 10.1016/j.scr.2021.102205. Epub 2021 Jan 29.
Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disease caused by CAG repeat expansion of the ATXN3 gene encoding ataxin-3 protein and is mainly manifested by motor symptoms such as ataxia and non-motor symptoms such as cognitive dysfunction. In this study, we obtained skin fibroblasts from a SCA3 patient and successfully constructed induced pluripotent stem cells (iPSCs) using the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28, and L-MYC. The generated iPSC line had a stable karyotype, expressed pluripotency markers, and could differentiate into all three germ layers in vitro. In addition, the iPSC line may be a useful model for identifying SCA3-related pathological mechanisms.
脊髓小脑性共济失调 3 型（SCA3）是一种由 ATXN3 基因 CAG 重复扩展引起的进行性神经退行性疾病，主要表现为共济失调等运动症状和认知功能障碍等非运动症状。本研究中，我们从 SCA3 患者获得皮肤成纤维细胞，并使用表达 OCT3/4、SOX2、KLF4、LIN28 和 L-MYC 的重编程质粒成功构建诱导多能干细胞（iPSC）。生成的 iPSC 系具有稳定的核型，表达多能性标志物，并能在体外分化为三个胚层。此外，该 iPSC 系可能是鉴定 SCA3 相关病理机制的有用模型。
