从携带杂合性 FLNC 突变的扩张型心肌病患者中生成两个诱导多能干细胞系。
Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying heterozygous FLNC mutations.
机构信息
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA.
出版信息
Stem Cell Res. 2022 Oct;64:102928. doi: 10.1016/j.scr.2022.102928. Epub 2022 Sep 26.
Dilated cardiomyopathy (DCM) is a heterogeneous cardiac disorder characterized by left ventricular dilatation and dysfunction. Mutations in dozens of cardiac genes have been connected to the development of DCM including the filamin C gene (FLNC). We generated two induced pluripotent stem cell (iPSCs) lines from DCM patients carrying single missense heterozygote FLNC mutations (c.6689G > A and c.3745G > A). Both lines expressed high levels of pluripotency markers, differentiated into derivatives of the three germ layers and possessed normal karyotypes. The derived iPSC lines can serve as powerful tools to model DCM in vitro and as a platform for therapeutic development.
扩张型心肌病（DCM）是一种以左心室扩张和功能障碍为特征的异质性心脏疾病。数十种心脏基因的突变与 DCM 的发生有关，包括细丝蛋白 C 基因（FLNC）。我们从携带单一错义杂合 FLNC 突变（c.6689G > A 和 c.3745G > A）的 DCM 患者中生成了两条诱导多能干细胞（iPSC）系。这两条系都表达高水平的多能性标志物，分化为三个胚层的衍生物，并具有正常的核型。衍生的 iPSC 系可作为体外 DCM 模型的有力工具，并可作为治疗开发的平台。
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