Generation of an Abcc8 homozygous mutation human embryonic stem cell line using CRISPR/Cas9

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• 作者：Dongsheng Guo^a ; ^b ; Haikun Liu^a ; ^b ; Ge Gao^a ; ^b ; Aynisahan Ruzi^a ; ^b ; Kepin Wang^b ; Han Wu^b ; Keyu Lai^b ; Yanli Liu^a ; ^b ; Fan Yang^a ; ^b ; Liangxue Lai^b ; Yin-xiong Li^a ; ^b ; ^c ; ^{li_yinxiong@gibh.ac.cn}
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：17
• 期：3
• 页码：640-642
• 全文大小：540 K
• 卷排序：17

文摘

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 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.