通过CRISPR/Cas9编辑产生GDE杂合突变人类胚胎干细胞系WAe001-A-14。
Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing.
作者信息
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
机构信息
Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Guangdong Provincial Key Laboratory of Biocomputing, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; University of Chinese Academy of Sciences, Beijing, China; Guangzhou Blood Center, Guangzhou, China.
Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Guangdong Provincial Key Laboratory of Biocomputing, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; University of Chinese Academy of Sciences, Beijing, China.
出版信息
Stem Cell Res. 2018 Mar;27:38-41. doi: 10.1016/j.scr.2017.12.009. Epub 2017 Dec 13.
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.
糖原脱支酶（GDE）在糖原分解中起关键作用。GDE基因突变与一种称为III型糖原贮积病（GSDIII）的代谢疾病相关。我们使用CRISPR/Cas9编辑系统生成了一个突变型GDE人类胚胎干细胞系WAe001-A-14。该细胞系在GDE的外显子13内有一个24个核苷酸的缺失，导致GDE蛋白从氨基酸位置567至575缺失8个氨基酸（TRLGISSL）。WAe001-A-14细胞系保持典型的干细胞形态、多能性和体外分化潜能，以及正常的核型。
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