Generation of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation
Generation of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation
复制标题
从携带 TOR1A 突变的孤立性肌张力障碍患者中生成患者特异性诱导多能干细胞系 (CSUi002-A)
DOI：
10.1016/j.scr.2021.102277
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发表时间：
2021-03-09
影响因子：
1.2
通讯作者：
Tang, Yu
中科院分区：
文献类型：
--
作者：
Wu, Junjiao;Ren, Jie;Tang, Yu
早发性孤立性肌张力障碍（DYT1）是一种遗传性神经运动疾病，由编码膜包埋ATP酶的基因torsin A（TOR1A）的单个氨基酸缺失引起。在这项研究中，我们产生了诱导多能干细胞（iPSC）线从成纤维细胞的DYT1患者的反转录病毒转导的Yamanaka因素。iPSC保留了杂合的TOR1A突变（p.Glu303del），显示出正常的核型，表达多能性标记，并在体外和体内表现出分化成三个胚层的潜力。这种DYT 1患者特异性iPSC将用于肌张力障碍病理生理学建模，并可能用于药物筛选。
Early onset isolated dystonia (DYT1) is a hereditary neurological movement disease caused by a single amino-acid deletion in torsin A (TOR1A), a gene encoding a membrane-embedded ATPase. In this study, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a DYT1 patient by the retroviral transduction of Yamanaka factors. The iPSCs retained the heterozygous TOR1A mutation (p.Glu303del), showed a normal karyotype, expressed pluripotency markers and exhibited the potential to differentiate into three germ layers both in vitro and in vivo. This DYT1 patient-specific iPSC will be used for modeling the dystonia pathophysiology and probably drug screening.