Holt-Oram syndrome (HOS), which is caused by genetic changes in the TBX5 gene, affects the hands and heart. HOS patients have heart defects, including atrial septal defects (ASD), ventricular septal defects (VSD) and heart conduction disease. Here, we generated a homozygous TBX5 knockout human embryonic stem cell (hESC) line (TBX5-KO) using a CRISPR/Cas9 system. The TBX5-KO maintained stem cell like morphology, pluripotency markers, normal karyotype, and could differentiate into all three germ layers in vivo. This cell line can provide an in vitro platform for studying the pathogenic mechanisms and biological function of TBX5 in the heart development.

由TBX5基因的遗传变化引起的Holt-Oram综合征（HOS）影响手和心脏。HOS患者有心脏缺陷，包括房间隔缺损（ASD），心室间隔缺损（VSD）和心脏传导疾病。在这里，我们使用CRISPR / Cas9系统生成了纯合的TBX5基因敲除的人类胚胎干细胞（hESC）系（TBX5-KO）。TBX5-KO维持干细胞的形态，多能性标记，正常的核型，并且可以在体内分化为所有三个胚层。该细胞系可为研究TBX5在心脏发育中的致病机制和生物学功能提供体外平台。