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从 PKP2 基因杂合突变导致的 ARVD/C 患者中生成三个诱导多能干细胞系,SCVIi003-A、SCVIi004-A、SCVIi005-A。

Generation of three induced pluripotent stem cell lines, SCVIi003-A, SCVIi004-A, SCVIi005-A, from patients with ARVD/C caused by heterozygous mutations in the PKP2 gene.

机构信息

Stanford Cardiovascular Institute, Stanford University, School of Medicine, United States.

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

出版信息

Stem Cell Res. 2021 May;53:102284. doi: 10.1016/j.scr.2021.102284. Epub 2021 Mar 12.

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited heart disease which can cause life-threatening ventricular arrhythmias and cardiac dysfunction. The autosomal dominant form of ARVD/C is caused by mutations in the cardiac desmosome, such as those in the plakoglobin plakophilin-2 (PKP2) gene. Here, we generated three human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of three ARVD/C patients carrying pathogenic variants in their PKP2 genes (c.2065_2070delinsG; c.235C>T; c.1725_1728dup). All lines show the typical morphology of pluripotent stem cells, demonstrate high expression of pluripotent markers, display normal karyotype, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of ARVD/C caused by PKP2 mutation.

摘要

致心律失常性右室心肌病(ARVD/C)是一种遗传性心脏病,可导致危及生命的室性心律失常和心功能障碍。ARVD/C 的常染色体显性形式是由心脏桥粒中的突变引起的,例如桥粒斑蛋白-2 (PKP2) 基因中的突变。在这里,我们从携带 PKP2 基因突变(c.2065_2070delinsG;c.235C>T;c.1725_1728dup)的三位 ARVD/C 患者的外周血单核细胞(PBMC)中生成了三条人诱导多能干细胞(iPSC)系。所有系均显示出多能干细胞的典型形态,表现出高表达多能标志物,具有正常核型,并在体外分化为三个胚层。这些系为研究由 PKP2 突变引起的 ARVD/C 的病理机制提供了有价值的资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0321/8457924/47af808e0099/nihms-1709694-f0001.jpg

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