Cellosaurus logo
expasy logo

Cellosaurus GM27667 (CVCL_YN55)

[Text version]
Cell line name GM27667
Accession CVCL_YN55
Resource Identification Initiative To cite this cell line use: GM27667 (RRID:CVCL_YN55)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11005; SLC2A1; Simple; c.680-11G>A; ClinVar=VCV000521457; Zygosity=Heterozygous (Coriell=GM27667).
Disease GLUT1 deficiency syndrome 1 (NCIt: C168599)
Classic glucose transporter type 1 deficiency syndrome (ORDO: Orphanet_71277)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27667
Encyclopedic resources Wikidata; Q93933293
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number8