Department of Cardiovascular Surgery, West China Hospital, Sichuan University Chengdu, Sichuan 610041, China.
Department of Cardiovascular Surgery, The Southwest Hospital of Army Medical University, Chongqing 400000, China.
Stem Cell Res. 2023 Feb;66:102999. doi: 10.1016/j.scr.2022.102999. Epub 2022 Dec 7.
Using peripheral blood mononuclear cell (PBMC) reprogramming technology, a human-induced pluripotent stem cell (iPSC) line was produced from a patient who presents classic clinical features of arrhythmogenic right ventricular cardiomyopathy (ARVA) and carries a de novo laminin subunit alpha 2 (LAMA2) heterozygous mutation (NM_000426.3: c.8842G > A, p.G2948S). This mutation was not inherited from his parents, who also present normal cardiac phenotype. This iPSC line demonstrates a normal karyotype. Pluripotency and differentiation capacity has been confirmed in vitro. This cell line can help in efforts to understand the pathogenic mechanism between LAMA2 mutation and ARVC.
利用外周血单核细胞（PBMC）重编程技术，从一位呈现心律失常性右心室心肌病（ARVC）典型临床特征且携带新出现的层粘连蛋白亚单位 alpha 2（LAMA2）杂合突变（NM_000426.3: c.8842G > A, p.G2948S）的患者中产生了一个人诱导多能干细胞（iPSC）系。该突变并非来自其父母，他们也表现出正常的心脏表型。该 iPSC 系显示正常核型。体外已证实其具有多能性和分化能力。该细胞系有助于了解 LAMA2 突变与 ARVC 之间的致病机制。
