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从 HCN4 基因突变导致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 caused by heterozygous mutations in the HCN4 gene.

机构信息

Stanford Cardiovascular Institute, Stanford University School of Medicine, United States; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, United States.

Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, United States.

出版信息

Stem Cell Res. 2022 Dec;65:102951. doi: 10.1016/j.scr.2022.102951. Epub 2022 Oct 19.

Abstract

Dilated cardiomyopathy (DCM) is a progressive heart muscle disease that can culminate with heart failure and death. Mutations in several genes can cause DCM, including hyperpolarization-activated cyclic nucleotide-gated channel (HCN4), which has a critical function in the autonomic control of the heart rate. Here, we generated two human induced pluripotent stem cell (iPSC) lines generated from two DCM patients carrying variants in the HCN4 gene (c.2587G > T and c.2846G > A). Both lines display normal karyotype, typical morphology of pluripotent stem cells, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of DCM.

摘要

扩张型心肌病(DCM)是一种进行性心肌疾病,最终可导致心力衰竭和死亡。几种基因突变可导致 DCM,包括超极化激活环核苷酸门控通道(HCN4),它在心脏自主节律控制中具有关键作用。在这里,我们从两个携带 HCN4 基因突变的 DCM 患者中生成了两个人类诱导多能干细胞(iPSC)系(c.2587G>T 和 c.2846G>A)。这两个系均显示正常核型、多能干细胞的典型形态,并且在体外分化为三个胚层。这些系是研究 DCM 病理机制的宝贵资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5012/9881502/7af7d3d5182d/nihms-1861918-f0001.jpg

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