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Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing.

Stem cell research - 1 Mar 2018

Xu Guosheng, Guo Dongsheng, Wu Feima, Abbas Nasir, Lai Keyu, Yuan Fang, You Kai, Liu Yanli, Zhuang Yuanqi, Wu Yuhang, Xu Yingying, Chen Yan, Yang Fan, Pan Tingcai, Li Yin-Xiong

Abstract excerpt

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)...

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PMID: 29310060
DOI: 10.1016/j.scr.2017.12.009

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