ID   QBRIi011-A
AC   CVCL_A4NW
SY   GCK-PNDM iPSCs
DR   hPSCreg; QBRIi011-A
DR   SKIP; SKIP005888
DR   Wikidata; Q105510632
RX   PubMed=32971462;
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Population: Egyptian.
CC   Sequence variation: Mutation; HGNC; HGNC:4195; GCK; Simple; p.Leu146Pro (c.437T>C); ClinVar=VCV002428681; Zygosity=Homozygous (PubMed=32971462).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114902; Permanent neonatal diabetes mellitus
DI   ORDO; Orphanet_99885; Permanent neonatal diabetes mellitus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=32971462; DOI=10.1016/j.scr.2020.101991;
RA   Abu Aqel, Yasmin W.
RA   Ali, Gowher
RA   Elsayed, Ahmed Kamel
RA   Al-Khawaga, Sara
RA   Hussain, Khalid
RA   Abdelalim, Essam 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).
//