Cellosaurus cell line QBRIi007-A (CVCL_YR07)

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Cell line name	QBRIi007-A
Synonyms	GLUT2 Mut-int iPSCs
Accession	CVCL_YR07
Resource Identification Initiative	To cite this cell line use: QBRIi007-A (RRID:CVCL_YR07)
Comments	From: Qatar Biomedical Research Institute; Doha; Quatar. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 11006; SLC2A2; Simple; c.613-7T>G (IVS5-7T>G); ClinVar=VCV001339449; Zygosity=Homozygous (PubMed=32146263).
Disease	Glycogen storage disease type XI (NCIt: C168998) Fanconi-Bickel syndrome (ORDO: Orphanet_2088)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A4NT ! QBRIi007-B CVCL_A4NU ! QBRIi007-C
Sex of cell	Female
Age at sampling	19Y
Category	Induced pluripotent stem cell
Publications	PubMed=32146263; DOI=10.1016/j.scr.2020.101736 Elsayed A.K., Aghadi M., Al-Khawaga S., Hussain K., Abdelalim E.M. Derivation of a human induced pluripotent stem cell line (QBRIi007-A) from a patient carrying a homozygous intronic mutation (c.613-7T>G) in the SLC2A2 gene. Stem Cell Res. 44:101736-101736(2020)
Cell line databases/resources	hPSCreg; QBRIi007-A SKIP; SKIP005881
Biological sample resources	BioSamples; SAMEA6597985
Encyclopedic resources	Wikidata; Q98128757
Entry history
Entry creation	12-Mar-2020
Last entry update	29-Jun-2023
Version number	8