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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.
Stem Cell Research ( IF 1.2 ) Pub Date : 2020-08-27 , DOI: 10.1016/j.scr.2020.101965
Danni Zhou 1 , Yaxun Sun 2 , Jiaxi Shen 1 , Jun Su 1 , Tingyu Gong 1 , Chenyang Jiang 2 , Ping Liang 1
Affiliation  

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.



中文翻译:

从患有致心律失常性右心室心肌病的患者的真皮成纤维细胞中产生诱导性多能干细胞系,该患者携带PKP2 / c.2489 + 1G> A突变。

心律失常性右心室心肌病(ARVC)是一种遗传性疾病,其中右心室心肌被进行性纤维性脂肪组织替代。ARVC的临床特征是右室扩大,室性心律不齐和心源性猝死。最终会导致心力衰竭,从而对患者的健康产生重大影响。在这项研究中,人类皮肤成纤维细胞是从ARVC患者中获得的,随后将其与非整合型仙台病毒进行重编程以生成患者特异性的诱导性多能干细胞(iPSC)系。iPSC品系显示出正常的核型和形态,表达了多能性标记,并能够分化为三个胚层。

更新日期:2020-08-27
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