从一名因 ALPK3 突变导致肥厚型心肌病的患者中生成的人诱导多能干细胞系 ZZUNEUi015-A。
Generation of a human iPSC line ZZUNEUi015-A from a patient with hypertrophic cardiomyopathy caused by mutation in ALPK3.
机构信息
Centre for Cardiovascular Diseases, Henan Key Laboratory of Hereditary Cardiovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450052, China.
Centre for Cardiovascular Diseases, Henan Key Laboratory of Hereditary Cardiovascular Diseases, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou 450052, China; Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University, National Clinical Research Centre for Cardiovascular Diseases, No. 2 Beijing Anzhen Road, Chaoyang District, Beijing 100029, China.
出版信息
Stem Cell Res. 2021 Apr;52:102247. doi: 10.1016/j.scr.2021.102247. Epub 2021 Feb 12.
Hypertrophic cardiomyopathy is the commonest monogenic cardiomyopathy in humans and was reported to be associated with ALPK3 gene mutation. We report the generation and characterization of the human induced pluripotent stem cell (iPSC) line ZZUNEUi015-A, which was derived from a patient with a heterozygous mutation in ALPK3 gene (c.1013 T > C) and diagnosed with hypertrophic cardiomyopathy. The ZZUNEUi015-A line maintains the morphology of stem cells, has pluripotency and normal karyotype, and differentiated into three germ layers in vitro.
肥厚型心肌病是人类最常见的单基因心肌病，据报道与 ALPK3 基因突变有关。我们报告了人类诱导多能干细胞（iPSC）系 ZZUNEUi015-A 的产生和特征，该细胞系源自一位携带 ALPK3 基因突变（c.1013T>C）的肥厚型心肌病患者。ZZUNEUi015-A 系保持干细胞的形态，具有多能性和正常核型，并在体外分化为三个胚层。
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