建立一株诱导多能干细胞系（ZJULLi004-A），其供者为一名携带 MYBPC3/c.3764C>A 突变的肥厚型心肌病患者。
Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation.
机构信息
Department of Cardiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China; Key Laboratory of Cardiovascular Intervention and Regenerative Medicine of Zhejiang Province, Hangzhou 310016, China.
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.
出版信息
Stem Cell Res. 2022 Oct;64:102898. doi: 10.1016/j.scr.2022.102898. Epub 2022 Aug 23.
Hypertrophic cardiomyopathy (HCM) is an inherited cardiovascular disease characterized by left ventricular hypertrophy and a high risk of sudden death. In this study, a skin biopsy was obtained from a HCM patient harboring a heterozygous missense mutation (c.3764C>A; p.A1225D) in the myosin binding protein C3 (MYBPC3) gene. The isolated fibroblasts were reprogrammed using non-integrated Sendai viral method to establish the patient-specific induced pluripotent stem cell (iPSC) line. The established iPSC line displayed normal morphology and karyotype, expressed pluripotency markers, and can differentiate into three germ layers in vivo.
肥厚型心肌病（HCM）是一种遗传性心血管疾病，其特征为左心室肥厚和猝死风险高。在这项研究中，从一位携带肌球蛋白结合蛋白 C3（MYBPC3）基因杂合错义突变（c.3764C＞A；p.A1225D）的 HCM 患者身上获得了皮肤活检样本。使用非整合性仙台病毒方法对分离出的成纤维细胞进行重编程，以建立该患者特异性诱导多能干细胞（iPSC）系。所建立的 iPSC 系显示出正常的形态和核型，表达多能性标记物，并能在体内分化为三个胚层。
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