Hang Chengwen, Song Yuanxiu, Wu Fujian, Dong Tao, Jiang Mengqi, Saleem Amina, Zhang Siyao, Chang Yun, Lu Wenjing, Cui Ming
Department of Cardiology, Peking University Third Hospital, Beijing 100191, China.
Translational Medicine Collaborative Innovation Center, The Second Clinical Medical College, Jinan University (Shenzhen People's Hospital), Shenzhen 518020, China.
Stem Cell Res. 2021 Jan 4;50:102152. doi: 10.1016/j.scr.2020.102152.
COX6A2 protein is a structural subunit of Complex IV (CIV/Cytochrome c oxidase/COX) in the mitochondrial respiratory chain. It is mainly expressed in the heart and skeletal muscle, also in some interneurons, regulating the assembly and catalytic activity of CIV. Its mutations can lead to COX deficiency, causing human myopathies, and maybe a potential cause of neurological abnormalities. Here, we used the CRISPR/Cas9 editing system to establish a homozygous COX6A2 knockout (COX6A2-KO) human embryonic stem cell (hESC) line. This COX6A2-KO hESC has normal morphology, pluripotency, and karyotype, which can differentiate into three germ layers in vivo.
COX6A2蛋白是线粒体呼吸链中复合物IV（CIV/细胞色素c氧化酶/COX）的结构亚基。它主要在心脏和骨骼肌中表达，在一些中间神经元中也有表达，调节CIV的组装和催化活性。其突变可导致COX缺乏，引起人类肌病，可能是神经异常的潜在原因。在这里，我们使用CRISPR/Cas9编辑系统建立了一个纯合的COX6A2基因敲除（COX6A2-KO）人类胚胎干细胞（hESC）系。该COX6A2-KO hESC具有正常的形态、多能性和核型，能够在体内分化为三个胚层。
