从一名携带有 MYBPC3 变异的南亚裔印度人身上生成一个新的人类诱导多能干细胞（hiPSC）系。
Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3 variant.
机构信息
Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India; Manipal Academy of Higher Education, Manipal, India.
Cardiovascular Biology and Disease Theme, Institute for Stem Cell Science and Regenerative Medicine, Bangalore (inStem), Bangalore, India; CSIR-Center for Cellular and Molecular Biology (CCMB), Hyderabad, India.
出版信息
Stem Cell Res. 2022 Dec;65:102978. doi: 10.1016/j.scr.2022.102978. Epub 2022 Nov 15.
Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction. Genetic variations in the MYBPC3 gene are known causal factors for cardiomyopathy and heart failure. Previously, we identified a recurrent MYBPC3 deletion (25 base pairs) among South Asians associated with cardiomyopathy and heart failure. Here, we generated an induced pluripotent stem cell (iPSC) line using peripheral blood mononuclear cells (PBMC) from an Indian harboring MYBPC3 deletion. This iPSC line displayed embryonic stem cell morphology, expressed pluripotency markers, differentiated into three germ layers and exhibited normal karyotype.
肌球蛋白结合蛋白 C3（MYBPC3）是一种粗肌丝收缩蛋白，与肌球蛋白、肌联蛋白和肌动蛋白相互作用，调节心肌收缩。MYBPC3 基因的遗传变异是导致心肌病和心力衰竭的已知因果因素。此前，我们在南亚人群中发现了一种与心肌病和心力衰竭相关的 MYBPC3 缺失（25 个碱基对）。在这里，我们使用携带 MYBPC3 缺失的印度人的外周血单核细胞（PBMC）生成了诱导多能干细胞（iPSC）系。该 iPSC 系表现出胚胎干细胞形态，表达多能性标记物，分化为三个胚层，并表现出正常核型。
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