ID   QBRIi010-A
AC   CVCL_A4NV
SY   GCK-MODY2 iPSCs
DR   hPSCreg; QBRIi010-A
DR   SKIP; SKIP005885
DR   Wikidata; Q105510623
RX   PubMed=32971462;
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Population: Egyptian.
CC   Sequence variation: Mutation; HGNC; 4195; GCK; Simple; p.Leu146Pro (c.437T>C); ClinVar=VCV002428681; Zygosity=Heterozygous (PubMed=32971462).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C129741; Glucokinase-associated diabetes mellitus
DI   ORDO; Orphanet_552; MODY
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4NX ! QBRIi010-B
OI   CVCL_A4NY ! QBRIi010-C
SX   Male
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=32971462; DOI=10.1016/j.scr.2020.101991;
RA   Abu Aqel Y.W., Ali G., Elsayed A.K., Al-Khawaga S., Hussain K.,
RA   Abdelalim E.M.;
RT   "Generation of two human iPSC lines from patients with maturity-onset
RT   diabetes of the young type 2 (MODY2) and permanent neonatal diabetes
RT   due to mutations in the GCK gene.";
RL   Stem Cell Res. 48:101991-101991(2020).
//