Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Department of Radiology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Stem Cell Res. 2022 Aug;63:102855. doi: 10.1016/j.scr.2022.102855. Epub 2022 Jul 11.
Familial dilated cardiomyopathy (DCM) is among the most prevalent forms of inherited heart disease. Here, two human-induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells (PBMCs) from DCM patients carrying different mutations in the phospholamban encoding-gene (PLN). Both iPSC lines exhibited normal morphology, karyotype, pluripotency marker expression, and differentiation into the three germ layers. These patient-specific iPSC lines serve as valuable in vitro models for DCM pathology caused by PLN mutations.
家族性扩张型心肌病（DCM）是最常见的遗传性心脏病之一。在这里，我们从携带不同肌浆网磷酸化酶（PLN）基因突变的 DCM 患者的外周血单核细胞（PBMC）中生成了两条人诱导多能干细胞（iPSC）系。这两条 iPSC 系均表现出正常的形态、核型、多能性标志物表达，并能分化为三个胚层。这些患者特异性 iPSC 系可作为 PLN 突变引起的 DCM 病理的有价值的体外模型。
