A homozygous p53 R282W mutant human embryonic stem cell line generated using TALEN-mediated precise gene editing

• Published in: Stem cell research Vol. 27; pp. 131 - 135
• Main Authors: Zhou, Ruoji, Xu, An, Wang, Donghui, Zhu, Dandan, Mata, Helen, Huo, Zijun, Tu, Jian, Liu, Mo, Mohamed, Alaa M.T., Jewell, Brittany E., Gingold, Julian, Xia, Weiya, Rao, Pulivarthi H., Hung, Mien-Chie, Zhao, Ruiying, Lee, Dung-Fang
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.03.2018; Elsevier
• Subjects: Gene Editing - methods; Homozygote; Human Embryonic Stem Cells - metabolism; Humans; Male; Mutation - genetics; Transcription Activator-Like Effector Nucleases - genetics; Transcription Activator-Like Effector Nucleases - metabolism; Tumor Suppressor Protein p53 - genetics
• ISSN: 1873-5061; 1876-7753; 1876-7753
• DOI: 10.1016/j.scr.2018.01.035

The tumor suppressor gene TP53 is the most frequently mutated gene in human cancers. Many hot-spot mutations of TP53 confer novel functions not found in wild-type p53 and contribute to tumor development and progression. We report on the generation of a H1 human embryonic stem cell line carrying a homozygous TP53 R282W mutation using TALEN-mediated genome editing. The generated cell line demonstrates normal karyotype, maintains a pluripotent state, and is capable of generating a teratoma in vivo containing tissues from all three germ layers.