Bai Rui, Fu Wei, Hou Xiaojie, Wan Juyi
Shenzhen Key Laboratory of Micro/Nano Biosensing, Shenzhen Institutes of Advanced Technology Chinese Academy of Sciences, Shenzhen 518055, China.
Department of Cardiac Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing 100069, China.
Stem Cell Res. 2025 Aug;86:103723. doi: 10.1016/j.scr.2025.103723. Epub 2025 Apr 20.
The Myosin light chain 3 (MYL3) gene encodes the ventricular essential light chain isoform, which is an important modulator of sarcomeric myosin cross-bridge kinetics. Variants in MYL3 are a cause of hypertrophic cardiomyopathy and dilated cardiomyopathy with cardiac failure and sudden cardiac death (SCD). To further elucidate the involvement of MYL3 in the pathogenesis of cardiomyopathies, we have created a MYL3 knockout human embryonic stem cell line using the CRISPR/Cas9 system. Notably, this MYL3-knockout cell line retains normal morphology, pluripotency, and karyotype. This resource provides a valuable tool for investigating MYL3-related health and disease.
肌球蛋白轻链3(MYL3)基因编码心室必需轻链异构体,它是肌节肌球蛋白横桥动力学的重要调节因子。MYL3基因变异是肥厚型心肌病以及伴有心力衰竭和心源性猝死(SCD)的扩张型心肌病的病因。为了进一步阐明MYL3在心肌病发病机制中的作用,我们利用CRISPR/Cas9系统创建了一个MYL3基因敲除的人类胚胎干细胞系。值得注意的是,这个MYL3基因敲除细胞系保持了正常的形态、多能性和核型。该资源为研究MYL3相关的健康和疾病提供了一个有价值的工具。