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诱导多能干细胞系 ICGi029-A 的建立,该细胞系来源于一名肥厚型心肌病患者的外周血单个核细胞,患者携带 MYBPC3 基因上的杂合性 p.N515del 突变。

Generation of an induced pluripotent stem cell line, ICGi029-A, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.N515del mutation in MYBPC3.

机构信息

Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia.

Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia; E.N. Meshalkin National Medical Research Center of the Ministry of Health of the Russian Federation, Novosibirsk, Russia.

出版信息

Stem Cell Res. 2021 May;53:102344. doi: 10.1016/j.scr.2021.102344. Epub 2021 Apr 12.

Abstract

Hypertrophic cardiomyopathy (HCM) is a common cardiovascular disease. However, effective methods of its therapy have not been developed so far. To date patient-specific induced pluripotent stem cell-derived cardiomyocytes are supposed to be a useful tool for studying HCM molecular mechanisms and to help find new approaches to HCM therapy. Using non-integrating episomal vectors, we generated an iPSC line from peripheral blood mononuclear cells of an HCM patient carrying a heterozygous p.N515del mutation in MYBPC3. The iPSC line expressed pluripotency markers, gave rise to derivatives of three germ layers during spontaneous differentiation, had normal karyotype, and retained the patient-specific mutation.

摘要

肥厚型心肌病(HCM)是一种常见的心血管疾病。然而,目前尚未开发出有效的治疗方法。迄今为止,基于患者特异性诱导多能干细胞(iPSC)分化而来的心肌细胞被认为是研究 HCM 分子机制和寻找新的 HCM 治疗方法的有用工具。我们使用非整合的附加型载体,从携带 MYBPC3 杂合 p.N515del 突变的 HCM 患者的外周血单核细胞中生成了 iPSC 系。该 iPSC 系表达多能性标志物,在自发分化过程中产生了三个胚层的衍生物,具有正常的核型,并保留了患者特异性突变。

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