从一名肯尼迪病患者中生成诱导多能干细胞（iPSC）系（INNDSUi007-A）。
Generation of an induced pluripotent stem cell (iPSC) line (INNDSUi007-A) from a patient with Kennedy disease.
作者信息
Li Bo, Yang Yitong, Wang Yingxin, Shan Didi, Li Jianing, Wang Hongxu, Sun Xiaohan, Tang Yao, Jiao Yichang, Ji Xinbo, Zhan Zexin, Kong Bo, Gao Bo, Wang Yu, Sun Ping, Liu Fuchen
机构信息
Department of Neurosurgery, Affiliated Hospital of Jining Medical University, Jining, Shandong, China.
School of Nursing, Jining Medical University, Jining, Shandong, China.
出版信息
Stem Cell Res. 2025 Feb;82:103638. doi: 10.1016/j.scr.2024.103638. Epub 2024 Dec 25.
Abnormal trinucleotide CAG repeat expansions in exon 1 of the Androgen Receptor (AR) gene has been identified as the cause of Kennedy disease (KD). We generated and characterized a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) of a patient with genetically confirmed KD. The pluripotency of these iPSCs was verified by the expression of several pluripotency markers at both RNA and protein levels, as well as their capability to differentiate into all three germ layers.
雄激素受体（AR）基因外显子1中异常的三核苷酸CAG重复扩增已被确定为肯尼迪病（KD）的病因。我们从一名基因确诊为KD的患者的外周血单个核细胞（PBMC）中生成并鉴定了一条人诱导多能干细胞（iPSC）系。这些iPSC的多能性通过几种多能性标志物在RNA和蛋白质水平的表达以及它们分化为所有三个胚层的能力得到了验证。
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