ID   MEN1 point mutation iPS-M22
AC   CVCL_JL82
DR   Wikidata; Q54905196
RX   PubMed=28395809;
CC   Sequence variation: Mutation; HGNC; HGNC:7010; MEN1; Simple_edited; p.Glu430Ter (c.1288G>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28395809).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C3225; Multiple endocrine neoplasia type 1
DI   ORDO; Orphanet_652; Multiple endocrine neoplasia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_RH99 ! UiPSC-015
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 14
//
RX   PubMed=28395809; DOI=10.1016/j.scr.2016.12.007;
RA   Guo D.-S., Liu H.-K., Gao G., Liu Y.-L., Zhuang Y.-Q., Yang F.,
RA   Wang K.-P., Zhou T.-C., Qin D.-J., Hong L.-Q., Li J.-L., Xu K.-C.,
RA   Li Y.-X.;
RT   "Creating a patient carried Men1 gene point mutation on wild type
RT   iPSCs locus mediated by CRISPR/Cas9 and ssODN.";
RL   Stem Cell Res. 18:67-69(2017).
//