Dong Tao, Zhang Siyao, Chang Yun, Bai Rui, Jiang Youxu, Ma Shuhong, Li Ya'nan, Jiang Hong Feng, Lu Wen-Jing
Beijing Laboratory for Cardiovascular Precision Medicine, The Key Laboratory of Remodeling-Related Cardiovascular Disease, Ministry of Education, Beijing Collaborative Innovation Center for Cardiovascular Disorders, Anzhen Hospital, Capital Medical University, Beijing 100029, China; Beijing Institute of Heart, Lung and Blood Vessel Diseases, Beijing 100029, China.
Beijing Laboratory for Cardiovascular Precision Medicine, The Key Laboratory of Remodeling-Related Cardiovascular Disease, Ministry of Education, Beijing Collaborative Innovation Center for Cardiovascular Disorders, 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;51:102196. doi: 10.1016/j.scr.2021.102196. Epub 2021 Jan 26.
SNTA1 encodes α1-syntrophin, a scaffold protein, which is a component of the dystrophin-associated protein complex. Additionally, α1-syntrophin interacts with SCN5A and nNOS-PMCA4b complex in cardiomyocytes. SNTA1 is a susceptibility locus for arrhythmia and cardiomyopathy. We generated a homozygous SNTA1 knockout human embryonic stem cell (H9SNTA1KO) using the CRISPR/Cas9 system. H9SNTA1KO maintained pluripotency and a normal karyotype and differentiated into three germ layers in vivo.
SNTA1编码α1-肌养蛋白，一种支架蛋白，它是肌营养不良蛋白相关蛋白复合体的一个组成部分。此外，α1-肌养蛋白在心肌细胞中与SCN5A和nNOS-PMCA4b复合体相互作用。SNTA1是心律失常和心肌病的一个易感基因座。我们使用CRISPR/Cas9系统生成了纯合SNTA1敲除的人胚胎干细胞（H9SNTA1KO）。H9SNTA1KO保持了多能性和正常的核型，并在体内分化为三个胚层。
