Cellosaurus cell line QBRIi011-A (CVCL

Cross-references
Cell line name	QBRIi011-A
Synonyms	GCK-PNDM iPSCs
Accession	CVCL_A4NW
Resource Identification Initiative	To cite this cell line use: QBRIi011-A (RRID:CVCL_A4NW)
Comments	From: Qatar Biomedical Research Institute; Doha; Quatar. Population: Egyptian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:4195; GCK; Simple; p.Leu146Pro (c.437T>C); ClinVar=VCV002428681; Zygosity=Homozygous (PubMed=32971462).
Disease	Permanent neonatal diabetes mellitus (NCIt: C114902) Permanent neonatal diabetes mellitus (ORDO: Orphanet_99885)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	11Y
Category	Induced pluripotent stem cell
Publications	PubMed=32971462; DOI=10.1016/j.scr.2020.101991 Yasmin W. Abu Aqel, Gowher Ali, Ahmed Kamel Elsayed, Sara Al-Khawaga, Khalid Hussain, Essam M. Abdelalim; Generation of two human iPSC lines from patients with maturity-onset diabetes of the young type 2 (MODY2) and permanent neonatal diabetes due to mutations in the GCK gene. Stem Cell Res. 48:101991-101991(2020)
Cell line databases/resources	hPSCreg; QBRIi011-A SKIP; SKIP005888
Encyclopedic resources	Wikidata; Q105510632
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	5