Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA.
Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Depart of Medicine, Stanford University School of Medicine, CA, USA.
Stem Cell Res. 2021 May;53:102279. doi: 10.1016/j.scr.2021.102279. Epub 2021 Mar 11.
Hypertrophic cardiomyopathy (HCM) is an inherited heart disease that can cause sudden cardiac death and heart failure. HCM often arises from mutations in sarcomeric genes, among which the MYBPC3 is the most frequently mutated. Here we generated two human induced pluripotent stem cell (iPSC) lines from a HCM patient who has a familial history of HCM and his daughter who carries the pathogenic non-coding mutation. All lines show the typical morphology of pluripotent cells, a high expression of pluripotency markers, normal karyotype, and in vitro capacity to differentiate into all three germ layers. These lines provide a valuable resource for studying the molecular basis of HCM and drug screening for HCM.
肥厚型心肌病（HCM）是一种遗传性心脏病，可导致心源性猝死和心力衰竭。HCM 通常源于肌节基因的突变，其中 MYBPC3 是最常突变的基因之一。在这里，我们从一位 HCM 患者及其携带致病性非编码突变的女儿中生成了两条人类诱导多能干细胞（iPSC）系。所有系均显示出多能细胞的典型形态、高表达多能性标志物、正常核型以及体外分化为三个胚层的能力。这些系为研究 HCM 的分子基础和 HCM 的药物筛选提供了有价值的资源。
