Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation
Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation
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DOI：
10.1016/j.scr.2020.101896
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发表时间：
2020-08-01
影响因子：
1.2
通讯作者：
Okano, Hideyuki
中科院分区：
文献类型：
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作者：
Leventoux, Nicolas;Morimoto, Satoru;Okano, Hideyuki
肌萎缩侧索硬化症（Amyotrophic Lateral Sclerosis，ALS）是成人最常见的运动神经元退行性疾病，TARDBP基因突变参与了其发病机制。我们在此介绍了我们如何从一名63岁男性患者的外周血中产生人诱导多能干细胞（hiPSC）系KE 1001-A/SM 4 -4-5，该患者在TARDBP基因座中存在c.1035C > G杂合SNP突变。所建立的hiPSC系不表达外源重编程因子oriP或EBNA 1，并且未显示核型异常，而其表达多能干细胞标记物，呈现SNP突变，并且能够在体外进行三胚层分化。
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.