ID   GM27667
AC   CVCL_YN55
DR   Coriell; GM27667
DR   Wikidata; Q93933293
CC   Sequence variation: Mutation; HGNC; HGNC:11005; SLC2A1; Simple; c.680-11G>A; ClinVar=VCV000521457; Zygosity=Heterozygous (Coriell=GM27667).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168599; GLUT1 deficiency syndrome 1
DI   ORDO; Orphanet_71277; Classic glucose transporter type 1 deficiency syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
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