title: Creating a patient carried Men1 gene point mutation on wild type iPSCs locus mediated by CRISPR/Cas9 and ssODN.
abstract: A patient specific point mutation (c.1288G>T) of Men1 gene was introduced into wide type iPSC line with CRISPR/Cas9 and single-stranded donor oligonucleotides carrying the mutation. The mutated iPSC line has a heterozygous c.1288G>T mutation on exon-9 of Men1 that was confirmed by sequencing analysis. The karyotype of this line was normal and the pluripotency was demonstrated by its ability to differentiate into three germ layers. These artificially created Men1 mutation in wild type iPSC line will help to dissect out the molecular basis of two patients carried the same mutation from one family who were differentially represented hypoglycemia.
authors.affiliation: Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Guo
authors.affiliation: Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Haikun
authors.initials: H
authors.lastname: Liu
authors.affiliation: Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Ge
authors.initials: G
authors.lastname: Gao
authors.affiliation: Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Yanli
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Yuanqi
authors.initials: Y
authors.lastname: Zhuang
authors.affiliation: Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, 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.
authors.forename: Fan
authors.initials: F
authors.lastname: Yang
authors.affiliation: South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Kepin
authors.initials: K
authors.lastname: Wang
authors.affiliation: South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Tiancheng
authors.initials: T
authors.lastname: Zhou
authors.affiliation: South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
authors.forename: Dajiang
authors.initials: D
authors.lastname: Qin
authors.affiliation: The third affiliated hospital of Sun Yat-sen University, Department of Kidney Transplantation, Guangzhou, China.
authors.forename: Liangqing
authors.initials: L
authors.lastname: Hong
authors.affiliation: Guangzhou Fuda Cancer Hospital, Guangzhou City, Guangdong Province, China.
authors.forename: Jialiang
authors.initials: J
authors.lastname: Li
authors.affiliation: Guangzhou Fuda Cancer Hospital, Guangzhou City, Guangdong Province, China.
authors.forename: Kecheng
authors.initials: K
authors.lastname: Xu
authors.affiliation: Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, 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; Guangzhou Fuda Cancer Hospital, Guangzhou City, Guangdong Province, China. Electronic address: li_yinxiong@gibh.ac.cn.
authors.forename: Yin-Xiong
authors.initials: YX
authors.lastname: Li
mesh_terms: D001483:Base Sequence; D064113:CRISPR-Cas Systems / Q000235:genetics*; D002454:Cell Differentiation; D002460:Cell Line; D004252:DNA Mutational Analysis; D058732:Embryoid Bodies / Q000378:metabolism / Q000473:pathology; D005091:Exons; D000072669:Gene Editing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology* / Q000378:metabolism; D059785:Karyotype; D008297:Male; D008856:Microscopy, Fluorescence; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D009838:Oligodeoxyribonucleotides / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: C105373:MEN1 protein, human; D009838:Oligodeoxyribonucleotides; D011518:Proto-Oncogene Proteins; D014157:Transcription Factors