ID   GM27682
AC   CVCL_ZW67
DR   Coriell; GM27682
DR   Wikidata; Q102113928
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:11005; SLC2A1; Simple; p.Arg212His (c.635G>A); ClinVar=VCV000265386; Zygosity=Heterozygous (Coriell=GM27682).
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   7Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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