Department of Cardiology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Department of Cardiology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Stem Cell Res. 2023 Sep;71:103162. doi: 10.1016/j.scr.2023.103162. Epub 2023 Jul 1.
The FLNA gene encodes the cytoskeletal protein filamin A which plays a key role in the structure and function of the cardiac valves. Truncating FLNA mutations are associated with cardiac valvular dysplasia. To further understand the exact role of FLNA in this disease, we have generated a human FLNA knockout cell line from H9 using CRISPR/Cas9 technology in this study. This cell line WAe009-A-P has a 2 bp deletion in the exon 2 of FLNA gene which resulted in a frameshift in the translation of FLNA and no FLNA protein was detected in this cell line. Moreover, WAe009-A-P also expressed pluripotency markers, had a normal female karyotype (46XX) and maintained the ability to differentiate into the three germ layers in vitro.
FLNA 基因编码细胞骨架蛋白细丝蛋白 A，它在心脏瓣膜的结构和功能中起着关键作用。截断的 FLNA 突变与心脏瓣膜发育不良有关。为了进一步了解 FLNA 在这种疾病中的确切作用，我们使用 CRISPR/Cas9 技术从 H9 中生成了人类 FLNA 敲除细胞系。该细胞系 WAe009-A-P 在 FLNA 基因的外显子 2 中存在 2 个碱基对缺失，导致 FLNA 翻译发生移码，并且在该细胞系中未检测到 FLNA 蛋白。此外，WAe009-A-P 还表达多能性标记物，具有正常的女性核型（46XX），并保持体外分化为三个胚层的能力。
