ID   CSMCi001-A-1
AC   CVCL_D0DN
SY   CS011iMEN1-n4.Homo5; CS011MEN1-n4.HomoMut5
DR   BioSamples; SAMEA112648669
DR   hPSCreg; CSMCi001-A-1
DR   Wikidata; Q123030973
RX   PubMed=37209468;
CC   From: Cedars-Sinai Medical Center iPSC Core Facility; Los Angeles; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 7010; MEN1; Simple; p.Arg465Ter (c.1393C>T) (p.Arg460Ter, c.1378C>T; ClinVar=VCV000016692; Zygosity=Heterozygous (PubMed=37209468).
CC   Sequence variation: Mutation; HGNC; 7010; MEN1; Simple_edited; p.Arg465Ter (c.1393C>T) (p.Arg460Ter, c.1378C>T; ClinVar=VCV000016692; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37209468).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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_D0DM ! CSMCi001-A
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37209468; DOI=10.1016/j.scr.2023.103124;
RA   Even-Zohar N., Metin-Armagan D., Ben-Shlomo A., Sareen D., Melmed S.;
RT   "Generation of isogenic and homozygous MEN1 mutant cell lines from
RT   patient-derived iPSCs using CRISPR/Cas9.";
RL   Stem Cell Res. 69:103124-103124(2023).
//