He Lang, Zhao Huifang, Li Shuai, Han Xiaobo, Chen Zhao, Wang Chunrong, Tian Chao, Tang Feng, Huang Rongqi, Lin Zuoxian, Li Zhiyuan, Tang Beisha, Jiang Hong
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
School of Life Sciences, University of Science and Technology of China, Hefei, China.
Stem Cell Res. 2020 May;45:101816. doi: 10.1016/j.scr.2020.101816. Epub 2020 Apr 21.
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by CAG repeated expansion in ATXN1 gene. We generated induced pluripotent stem cells (iPSCs) from the urine exfoliated epithelial cells of SCA1 patient by using the integration-free methods. The patient derived iPSCs retained the mutation (the 65 CAG expansion tracts in ATXN1 gene), displayed normal karyotypes, expressed pluripotency markers and had the potential to differentiate towards three germ layers in vivo. This type of stem cell model will be valuable for elucidating the pathological mechanism and screening potential drugs of SCA1.
1型脊髓小脑共济失调（SCA1）是一种由ATXN1基因中CAG重复扩增引起的遗传性神经退行性疾病。我们采用无整合方法从SCA1患者的尿液脱落上皮细胞中生成了诱导多能干细胞（iPSC）。患者来源的iPSC保留了突变（ATXN1基因中的65个CAG扩增片段），显示出正常的核型，表达多能性标志物，并具有在体内向三个胚层分化的潜力。这种类型的干细胞模型对于阐明SCA1的病理机制和筛选潜在药物将具有重要价值。
