Abstract:
Dilated cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in dozens of cardiac genes have been connected to the development of DCM including the Troponin T2 gene (TNNT2). Here, we generated a human induced pluripotent stem cells (hiPSCs) from a DCM patient with a familial history that carries a missense mutation in TNNT2. The hiPSCs show typical morphology of pluripotent stem cells, expression of pluripotency markers, normal karyotype, and in vitro capacity to differentiate into all three germ layers.
摘要:
扩张型心肌病(DCM)是心脏猝死和心力衰竭的主要原因之一,是全球心脏移植的主要指征。数十种心脏基因的突变与包括肌钙蛋白T2基因(TNNT2)在内的DCM的发展有关。这里,我们从一名有家族病史的DCM患者中产生了人诱导多能干细胞(hiPSCs),该患者在TNNT2中携带错义突变.hiPSCs显示多能干细胞的典型形态,多能性标记的表达,正常核型,和体外分化为所有三个胚层的能力。