期刊
STEM CELL RESEARCH
卷 27, 期 -, 页码 38-41出版社
ELSEVIER
DOI: 10.1016/j.scr.2017.12.009
关键词
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资金
- National Basic Research Program of China 973 Program [2015CB964700]
- Chinese Government Recruitment Thousand Talents Program [ODCCC2268]
- Guangdong Province Science and Technology Plan [2014B020225004, 2016B030301007, 2015B020230007]
- Guangdong Provincial Natural Science Foundation [2014A030310058]
- Guangzhou Science and Technology Project [201704020212]
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. (c) 2017 The Authors. Published by Elsevier B.V.
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