ID   QBRIi012-A
AC   CVCL_A8MY
SY   GLUT2-exo-mut iPSCs
DR   hPSCreg; QBRIi012-A
DR   Wikidata; Q108821194
RX   PubMed=34171785;
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Population: Palestinian.
CC   Sequence variation: Mutation; HGNC; 11006; SLC2A2; Simple; p.Arg301Ter (c.901C>T); ClinVar=VCV000016093; Zygosity=Homozygous (PubMed=34171785).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168998; Glycogen storage disease type XI
DI   NCIt; C114902; Permanent neonatal diabetes mellitus
DI   ORDO; Orphanet_2088; Fanconi-Bickel syndrome
DI   ORDO; Orphanet_99885; Permanent neonatal diabetes mellitus
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34171785; DOI=10.1016/j.scr.2021.102433;
RA   Elsayed A.K., Al-Khawaga S., Hussain K., Abdelalim E.M.;
RT   "An induced pluripotent stem cell line derived from a patient with
RT   neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous
RT   mutation in the SLC2A2 gene.";
RL   Stem Cell Res. 54:102433-102433(2021).
//