Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China.
Stem Cell Res. 2022 Aug;63:102848. doi: 10.1016/j.scr.2022.102848. Epub 2022 Jun 20.
Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease often caused by sarcomeric gene mutations. MYBPC3 is one of the most common genes associated with HCM. In this study, we generated a human induced pluripotent stem cell line ZZUNEUi028-A from a 19-year-old male HCM patient with c. 1504C → T in MYBPC3 gene using non-integrative Sendai viral reprogramming technology. This cell line expresses pluripotency markers, exhibits a normal male karyotype (46, XY) and can differentiate into all three germ layers in vitro. ZZUNEUi028-A can serve as a cell disease model in the understanding of HCM pathogenesis.
肥厚型心肌病（HCM）是最常见的遗传性心脏病，通常由肌节基因突变引起。MYBPC3 是与 HCM 相关的最常见基因之一。在这项研究中，我们使用非整合性 Sendai 病毒重编程技术，从一位 19 岁的男性 HCM 患者中产生了一个人诱导多能干细胞系 ZZUNEUi028-A，该患者在 MYBPC3 基因中有 c.1504C→T 突变。该细胞系表达多能性标志物，具有正常的男性核型（46, XY），并且可以在体外分化为三个胚层。ZZUNEUi028-A 可作为研究 HCM 发病机制的细胞疾病模型。
