ID   GM27659
AC   CVCL_YN52
DR   Coriell; GM27659
DR   Wikidata; Q93933285
CC   Sequence variation: Mutation; HGNC; HGNC:11005; SLC2A1; Simple; p.Trp65Ter (c.195G>A); Zygosity=Heterozygous (Coriell=GM27659).
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   Female
AG   25Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 7
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