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从一名房颤患者中生成了一株携带RYR2基因杂合突变的人诱导多能干细胞系(XACHi004-A)。

Generation of one human induced pluripotent stem cell line (XACHi004-A) with heterozygous mutation of RYR2 gene from an atrial fibrillation patient.

作者信息

Zhou Yafei, Jiang Congshan, Wang Jie, Huang Wenjun, Zhang Yanmin, Zhou Rui

机构信息

National Regional Children's Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University. No. 69, Xijuyuan Lane, Xi'an 710003, China.

National Regional Children's Medical Center (Northwest), Key Laboratory of Precision Medicine to Pediatric Diseases of Shaanxi Province, Xi'an Key Laboratory of Children's Health and Diseases, Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University. No. 69, Xijuyuan Lane, Xi'an 710003, China; Department of Cardiology, Xi'an Children's Hospital, Affiliated Children's Hospital of Xi'an Jiaotong University. No.69, Xijuyuan Lane, Xi'an 710003, China.

出版信息

Stem Cell Res. 2022 Dec;65:102955. doi: 10.1016/j.scr.2022.102955. Epub 2022 Oct 31.

Abstract

As the most frequently diagnosed arrhythmia, atrial fibrillation (AF) has been recently reported to be closely related to ryanodine receptor (RyR2) dysfunction and calcium leak. Here, using non-integrating sendai viral method, we generated one iPSC line from peripheral blood mononuclear cells (PBMC) isolated a 10-year-old boy with simple atrial fibrillation which carries the heterozygous mutation in RYR2 gene (c.14638G > A, p.V4880I). The generated iPSC line was identified by the typical cell morphology, highly expressed pluripotent markers, normal karyotype, and in-vitro trilineage differentiation potential. It will provide a useful model for studying the pathophysiological consequences of RYR2 mutation on the AF pathogenesis.

摘要

作为最常被诊断出的心律失常,心房颤动(AF)最近被报道与兰尼碱受体(RyR2)功能障碍和钙泄漏密切相关。在此,我们使用非整合型仙台病毒方法,从一名患有单纯性心房颤动的10岁男孩分离出的外周血单个核细胞(PBMC)中生成了一条诱导多能干细胞(iPSC)系,该男孩的RYR2基因存在杂合突变(c.14638G>A,p.V4880I)。所生成的iPSC系通过典型的细胞形态、高表达的多能性标志物、正常的核型以及体外三胚层分化潜能进行鉴定。它将为研究RYR2突变对AF发病机制的病理生理后果提供一个有用的模型。

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