Cellosaurus cell line QBRIi012-A (CVCL

Cross-references
Cell line name	QBRIi012-A
Synonyms	GLUT2-exo-mut iPSCs
Accession	CVCL_A8MY
Resource Identification Initiative	To cite this cell line use: QBRIi012-A (RRID:CVCL_A8MY)
Comments	From: Qatar Biomedical Research Institute; Doha; Quatar. Population: Palestinian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:11006; SLC2A2; Simple; p.Arg301Ter (c.901C>T); ClinVar=VCV000016093; Zygosity=Homozygous (PubMed=34171785).
Disease	Glycogen storage disease type XI (NCIt: C168998) Permanent neonatal diabetes mellitus (NCIt: C114902) Fanconi-Bickel syndrome (ORDO: Orphanet_2088) Permanent neonatal diabetes mellitus (ORDO: Orphanet_99885)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=34171785; DOI=10.1016/j.scr.2021.102433 Elsayed A.K., Al-Khawaga S., Hussain K., Abdelalim E.M. An induced pluripotent stem cell line derived from a patient with neonatal diabetes and Fanconi-Bickel syndrome caused by a homozygous mutation in the SLC2A2 gene. Stem Cell Res. 54:102433-102433(2021)
Cell line databases/resources	hPSCreg; QBRIi012-A
Encyclopedic resources	Wikidata; Q108821194
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	5