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

Stem Cell Res. 2016 Nov;17(3):640-642. doi: 10.1016/j.scr.2016.11.011. Epub 2016 Nov 9.


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 22bp 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • CRISPR-Cas Systems / genetics*
  • Cell Differentiation
  • Cell Line
  • Embryoid Bodies / cytology
  • Embryoid Bodies / metabolism
  • Homozygote
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Humans
  • Hyperinsulinism / genetics
  • Hyperinsulinism / pathology*
  • Karyotype
  • Male
  • Microscopy, Fluorescence
  • Sequence Alignment
  • Sulfonylurea Receptors / genetics*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism


  • ABCC8 protein, human
  • Sulfonylurea Receptors
  • Transcription Factors