ID   QBRIi007-C
AC   CVCL_A4NU
DR   SKIP; SKIP005867
DR   Wikidata; Q105510621
CC   From: Qatar Biomedical Research Institute; Doha; Quatar.
CC   Sequence variation: Mutation; HGNC; 11006; SLC2A2; Simple; c.613-7T>G (IVS5-7T>G); ClinVar=VCV001339449; Zygosity=Homozygous (from autologous cell line QBRIi007-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168998; Glycogen storage disease type XI
DI   ORDO; Orphanet_2088; Fanconi-Bickel syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YR07 ! QBRIi007-A
OI   CVCL_A4NT ! QBRIi007-B
SX   Female
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
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