Cellosaurus cell line MEN1 point mutation iPS-M22 (CVCL

Cross-references
Cell line name	MEN1 point mutation iPS-M22
Accession	CVCL_JL82
Resource Identification Initiative	To cite this cell line use: MEN1 point mutation iPS-M22 (RRID:CVCL_JL82)
Comments	Derived from site: In situ; Urine; UBERON=UBERON_0001088. Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations	Mutation; HGNC; HGNC:7010; MEN1; Simple_edited; p.Glu430Ter (c.1288G>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28395809).
Disease	Multiple endocrine neoplasia type 1 (NCIt: C3225) Multiple endocrine neoplasia type 1 (ORDO: Orphanet_652)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_RH99 (UiPSC-015)
Sex of cell	Male
Age at sampling	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=28395809; DOI=10.1016/j.scr.2016.12.007 Dong-Sheng Guo, Hai-Kun Liu, Ge Gao, Yan-Li Liu, Yuan-Qi Zhuang, Fan Yang, Ke-Pin Wang, Tian-Cheng Zhou, Da-Jiang Qin, Liang-Qing Hong, Jia-Liang Li ...Show all 13 authors... , Ke-Cheng Xu, Yin-Xiong Li; Show fewer authors Creating a patient carried Men1 gene point mutation on wild type iPSCs locus mediated by CRISPR/Cas9 and ssODN. Stem Cell Res. 18:67-69(2017)
Encyclopedic resources	Wikidata; Q54905196
Entry history
Entry creation	15-May-2017
Last entry update	19-Dec-2024
Version number	14