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Cellosaurus GM27137 (CVCL_YN23)

[Text version]
Cell line name GM27137
Accession CVCL_YN23
Resource Identification Initiative To cite this cell line use: GM27137 (RRID:CVCL_YN23)
Comments Population: Caucasian; English/German/Italian.
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; p.Thr295Lys (c.884C>A); ClinVar=VCV001298419; Zygosity=Heterozygous (Coriell=GM27137).
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 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27137
Encyclopedic resources Wikidata; Q93933024
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9