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)。
Generation of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation.
机构信息
Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410008, China; Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital, Central South University, Changsha 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China.
Department of Geriatrics, Xiangya Hospital, Central South University, Changsha 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China.
出版信息
Stem Cell Res. 2021 May;53:102277. doi: 10.1016/j.scr.2021.102277. Epub 2021 Mar 4.
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.
早发性特发性肌张力障碍（DYT1）是一种遗传性神经系统运动疾病，由编码膜结合 ATP 酶的 torsin A（TOR1A）基因中单个氨基酸缺失引起。在这项研究中，我们通过逆转录病毒转导 Yamanaka 因子，从 DYT1 患者的成纤维细胞中产生了一个诱导多能干细胞（iPSC）系。iPSC 保留了杂合 TOR1A 突变（p.Glu303del），具有正常的核型，表达多能性标记物，并具有在体外和体内分化为三个胚层的潜能。这种 DYT1 患者特异性 iPSC 将用于建模肌张力障碍的病理生理学，可能还用于药物筛选。
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