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从一名携带PKP2/c.2489 + 1G>A突变的致心律失常性右室心肌病患者的皮肤成纤维细胞中生成诱导多能干细胞系。

Generation of an induced pluripotent stem cell line from the dermal fibroblasts of a patient with arrhythmogenic right ventricular cardiomyopathy carrying a PKP2/c.2489 + 1G > A mutation.

作者信息

Zhou Danni, Sun Yaxun, Shen Jiaxi, Su Jun, Gong Tingyu, Jiang Chenyang, Liang Ping

机构信息

Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou 310029, China.

Department of Cardiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China.

出版信息

Stem Cell Res. 2020 Oct;48:101965. doi: 10.1016/j.scr.2020.101965. Epub 2020 Aug 27.

DOI:10.1016/j.scr.2020.101965
PMID:32916635
Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease in which the right ventricular myocardium is replaced by progressive fibrous adipose tissue. ARVC is clinically characterized by right ventricular enlargement, ventricular arrhythmia, and sudden cardiac death. It eventually leads to heart failure, and thus has a significant impact on the patient's health. In this study, human dermal fibroblasts were obtained from a patient with ARVC, which were subsequently reprogrammed with a non-integrated Sendai virus to generate a patient-specific induced pluripotent stem cell (iPSC) line. The iPSC line exhibited normal karyotype and morphology, expressed pluripotency markers, and was capable of differentiating into three germ layers.

摘要

致心律失常性右室心肌病(ARVC)是一种遗传性疾病,其中右心室心肌被进行性纤维脂肪组织替代。ARVC的临床特征为右心室扩大、室性心律失常和心源性猝死。它最终会导致心力衰竭,因此对患者健康有重大影响。在本研究中,从一名ARVC患者获取人皮肤成纤维细胞,随后用无整合的仙台病毒对其进行重编程,以生成患者特异性诱导多能干细胞(iPSC)系。该iPSC系表现出正常的核型和形态,表达多能性标志物,并且能够分化为三个胚层。

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Generation of an induced pluripotent stem cell line from the dermal fibroblasts of a patient with arrhythmogenic right ventricular cardiomyopathy carrying a PKP2/c.2489 + 1G > A mutation.从一名携带PKP2/c.2489 + 1G>A突变的致心律失常性右室心肌病患者的皮肤成纤维细胞中生成诱导多能干细胞系。
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引用本文的文献

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In Vivo Approaches to Understand Arrhythmogenic Cardiomyopathy: Perspectives on Animal Models.在体方法理解致心律失常性心肌病:动物模型的观点。
Cells. 2024 Jul 27;13(15):1264. doi: 10.3390/cells13151264.
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Modeling Nonischemic Genetic Cardiomyopathies Using Induced Pluripotent Stem Cells.使用诱导多能干细胞建立非缺血性遗传性心肌病模型。
Curr Cardiol Rep. 2022 Jun;24(6):631-644. doi: 10.1007/s11886-022-01683-8. Epub 2022 Jun 3.
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Translational potential of hiPSCs in predictive modeling of heart development and disease.人诱导多能干细胞在心脏发育和疾病预测模型中的转化潜力。
Birth Defects Res. 2022 Oct 1;114(16):926-947. doi: 10.1002/bdr2.1999. Epub 2022 Mar 9.