ID   GM27137
AC   CVCL_YN23
DR   Coriell; GM27137
DR   Wikidata; Q93933024
CC   Population: Caucasian; English/German/Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:11005; SLC2A1; Simple; p.Thr295Lys (c.884C>A); ClinVar=VCV001298419; Zygosity=Heterozygous (Coriell=GM27137).
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   6Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
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