Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
Department of Cardiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China; Henan Key Laboratory of Hereditary Cardiovascular Diseases, Zhengzhou 450052, China.
Stem Cell Res. 2023 Sep;71:103182. doi: 10.1016/j.scr.2023.103182. Epub 2023 Aug 10.
Familial hypercholesterolemia is a hereditary disorder that causes severely elevated low-density lipoprotein levels, which can lead to an increased risk for premature cardiovascular disease. Mutations in the LDLR gene are the most common cause of familial hypercholesterolemia. In this study, we report the generation of ZZUNEUi029-A, a human induced pluripotent stem cell line (hiPSC) from a male patient with c. 622 G → A in LDLR gene using non-integrative Sendai viral reprogramming technology. This cell line expressed pluripotency markers, had a normal male karyotype (46XY) and maintained the ability to differentiate into the three germ layers in vitro.
家族性高胆固醇血症是一种遗传性疾病，可导致低密度脂蛋白水平严重升高，从而增加早发心血管疾病的风险。LDLR 基因突变是家族性高胆固醇血症的最常见原因。在这项研究中，我们报告了使用非整合性 Sendai 病毒重编程技术，从一名 LDLR 基因 c.622G→A 突变的男性患者中产生的 ZZUNEUi029-A 人诱导多能干细胞系（hiPSC）。该细胞系表达多能性标记物，具有正常的男性核型（46XY），并保持体外向三个胚层分化的能力。
