Zhao Tiantian, Bai Rui, Wu Fujian, Lu Wen-Jing, Zhang Jun
Anzhen Hospital, Capital Medical University, Beijing 100029, China.
Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China.
Stem Cell Res. 2021 Mar;51:102156. doi: 10.1016/j.scr.2021.102156. Epub 2021 Jan 6.
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.
霍尔特-奥拉姆综合征（HOS）由TBX5基因的遗传变化引起，会影响手部和心脏。HOS患者存在心脏缺陷，包括房间隔缺损（ASD）、室间隔缺损（VSD）和心脏传导疾病。在此，我们使用CRISPR/Cas9系统生成了一个纯合TBX5基因敲除的人类胚胎干细胞（hESC）系（TBX5-KO）。TBX5-KO保持了干细胞样的形态、多能性标记、正常核型，并且能够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一个体外平台。
