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Cellosaurus QBRIi007-C (CVCL_A4NU)

[Text version]
Cell line name QBRIi007-C
Accession CVCL_A4NU
Resource Identification Initiative To cite this cell line use: QBRIi007-C (RRID:CVCL_A4NU)
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 (from autologous cell line QBRIi007-A).
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_YR07 ! QBRIi007-A
CVCL_A4NT ! QBRIi007-B
Sex of cell Female
Age at sampling 19Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources SKIP; SKIP005867
Encyclopedic resources Wikidata; Q105510621
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5