Amyotrophic Lateral Sclerosis is the most common motor neuron degenerative disease in adults, and TARDBP gene mutations have been reported to be involved in the pathogenesis. We present here how we generated the human induced pluripotent stem cell (hiPSC) line KEIOi001-A/SM4-4-5 from the peripheral blood of a 63-year-old male patient presenting the c.1035C > G heterozygous SNP mutation in the TARDBP gene locus. The established hiPSC line does not express the exogenous reprogramming factors oriP nor EBNA1 and shows no karyotypic abnormalities, while it expresses pluripotent stem cell markers, presents the SNP mutation and is capable of three-germ layers differentiation in vitro.

肌萎缩侧索硬化症是成人最常见的运动神经元退行性疾病，据报道 TARDBP 基因突变参与其发病机制。我们在此介绍如何从一名 63 岁男性患者的外周血中生成人类诱导多能干细胞 (hiPSC) 系 KEIOi001-A/SM4-4-5，该患者的细胞中存在 c.1035C > G 杂合 SNP 突变TARDBP 基因位点。所建立的hiPSC系不表达外源重编程因子oriP和EBNA1，无核型异常，但表达多能干细胞标志物，呈现SNP突变，能够在体外进行三胚层分化。