Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing
oleh: Guosheng Xu, Dongsheng Guo, Feima Wu, Nasir Abbas, Keyu Lai, Fang Yuan, Kai You, Yanli Liu, Yuanqi Zhuang, Yuhang Wu, Yingying Xu, Yan Chen, Fan Yang, Tingcai Pan, Yin-xiong Li
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2018-03-01 |
Deskripsi
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.