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

Dongsheng Guo; Haikun Liu; Ge Gao; Aynisahan Ruzi; Kepin Wang; Han Wu; Keyu Lai; Yanli Liu; Fan Yang; Liangxue Lai; Yin xiong Li

doi:10.1016/j.scr.2016.11.011

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

Dongsheng Guo, Haikun Liu, Ge Gao, Aynisahan Ruzi, Kepin Wang, Han Wu, Keyu Lai, Yanli Liu, Fan Yang, Liangxue Lai, Yin xiong Li^*

^*Corresponding author for this work

CAS - Guangzhou Institute of Biomedicine and Health

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	640-642
Number of pages	3
Journal	Stem Cell Research
Volume	17
Issue number	3
DOIs	https://doi.org/10.1016/j.scr.2016.11.011
Publication status	Published - Nov 2016
Externally published	Yes

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title = "Generation of an Abcc8 homozygous mutation human embryonic stem cell line using CRISPR/Cas9",

abstract = "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.",

author = "Dongsheng Guo and Haikun Liu and Ge Gao and Aynisahan Ruzi and Kepin Wang and Han Wu and Keyu Lai and Yanli Liu and Fan Yang and Liangxue Lai and Li, \{Yin xiong\}",

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year = "2016",

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doi = "10.1016/j.scr.2016.11.011",

language = "English",

volume = "17",

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T1 - Generation of an Abcc8 homozygous mutation human embryonic stem cell line using CRISPR/Cas9

AU - Guo, Dongsheng

AU - Liu, Haikun

AU - Gao, Ge

AU - Ruzi, Aynisahan

AU - Wang, Kepin

AU - Wu, Han

AU - Lai, Keyu

AU - Liu, Yanli

AU - Yang, Fan

AU - Lai, Liangxue

AU - Li, Yin xiong

PY - 2016/11

Y1 - 2016/11

N2 - 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.

AB - 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.

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DO - 10.1016/j.scr.2016.11.011

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SN - 1873-5061

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JO - Stem Cell Research

JF - Stem Cell Research

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ER -

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

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