Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing
Summary
Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. This cell line contains a 24-nucleotide deletion within exon-13 of GDE, resulting in 8 amino acids (TRLGISSL) missing of the GDE protein from amino acid position 567 to 575. The WAe001-A-14 cell line maintains typical stem cell morphology, pluripotency and in vitro differentiation potential, and a normal karyotype. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Xu G, Guo D, Wu F, Abbas N, Lai K, Yuan F, You K, Liu Y, Zhuang Y, Wu Y, Xu Y, Chen Y, Yang F, Pan T, Li YX |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Mar;27:38-41 |
| PubMed | 29310060 |
| DOI | 10.1016/j.scr.2017.12.009 |