期刊
STEM CELL RESEARCH
卷 17, 期 3, 页码 640-642出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.scr.2016.11.011
关键词
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资金
- Haizhu District Science and Technology Plan [2011-ZD-02, 2014-CG-05]
- Ministry of Science and Technology of the People's Republic of China 973 Program [2015CB964700]
- Guangdong Province Science and Technology Plan [2016B030301007]
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 beta-cell regulating insulin secretion. Mutations of ABCC8 are responsible for congenital hyperinsulinism (CHI). Here we generated an Abcc8 homozygous mutant cell line by CRISPR/Cas9 technique with 22 bp deletion resulting in abnormal splicing on human embryonic stem cell line H1. The phenotypic characteristics of this cell line reveal defective KATP channel and diazoxide-unresponsive that provides an ideal model for molecular pathology research and drug screening for CHI. (C) 2016 The Authors. Published by Elsevier B.V.
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