He Lang, Ye Wei, Chen Zhao, Wang Chunrong, Zhao Huifang, Li Shuai, Peng Linliu, Han Xiaobo, Zhou Tiancheng, 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. 2019 Oct;40:101555. doi: 10.1016/j.scr.2019.101555. Epub 2019 Aug 27.
The induced pluripotent stem cell (iPSC) line XHCSUi001-A generated from urine cells of a female spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) patient by using the integration-free methods. The induced XHCSUi001-A retained the disease-causing ATXN3 mutation, expressed pluripotency markers, exhibited a normal karyotype and retained the ability to differentiate into the three germ layers in-vitro and in-vivo. This newly induced iPSC line could be a potential tool for researching the disease-specific mechanisms and drug screening of SCA3/MJD.
通过无整合方法从一名患有3型脊髓小脑共济失调/马查多-约瑟夫病（SCA3/MJD）的女性患者的尿液细胞中产生了诱导多能干细胞（iPSC）系XHCSUi001-A。诱导产生的XHCSUi001-A保留了致病的ATXN3突变，表达多能性标志物，具有正常的核型，并保留了在体外和体内分化为三个胚层的能力。这个新诱导的iPSC系可能是研究SCA3/MJD疾病特异性机制和药物筛选的潜在工具。
