利用CRISPR/Cas9技术生成Abcc8杂合突变人类胚胎干细胞系。
Generation of an Abcc8 heterozygous mutation human embryonic stem cell line using CRISPR/Cas9.
作者信息
Guo Dongsheng, Liu Haikun, Gao Ge, Ruzi Aynisahan, Wang Kepin, Wu Han, Lai Keyu, Liu Yanli, Yang Fan, Lai Liangxue, Li Yin-Xiong
机构信息
Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
出版信息
Stem Cell Res. 2016 Nov;17(3):670-672. doi: 10.1016/j.scr.2016.11.014. Epub 2016 Nov 5.
The gene of ATP-binding cassette subfamily C member 8 (Abcc8) is cytogenetically located at 11p15.1 and encodes the sulfonylurea receptor (SUR1). SUR1 is a subunit of ATP-sensitive potassium channel (KAPT) in the β-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we reported that an Abcc8 heterozygous mutant cell line was generated by CRISPR/Cas9 technique with 1bp insertion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-responsive that provides ideal model for molecular pathology research and drug screening for CHI.
ATP结合盒亚家族C成员8（Abcc8）基因在细胞遗传学上定位于11p15.1，编码磺脲类受体（SUR1）。SUR1是β细胞中调节胰岛素分泌的ATP敏感性钾通道（KAPT）的一个亚基。ABCC8突变导致先天性高胰岛素血症（CHI）。在此，我们报道通过CRISPR/Cas9技术在人胚胎干细胞系H1中产生了一个Abcc8杂合突变细胞系，该突变导致1个碱基对插入，引起异常剪接。该细胞系的表型特征显示ATP敏感性钾通道功能缺陷且对二氮嗪有反应，这为CHI的分子病理学研究和药物筛选提供了理想模型。
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