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Cellosaurus GM18308 (CVCL_5Q85)

[Text version]
Cell line name GM18308
Accession CVCL_5Q85
Resource Identification Initiative To cite this cell line use: GM18308 (RRID:CVCL_5Q85)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:21317; DYM; Simple; p.Tyr16Ter (c.48C>G); ClinVar=VCV000003184; Zygosity=Homozygous (Coriell=GM18308).
Disease Dyggve-Melchior-Clausen syndrome (NCIt: C124844)
Dyggve-Melchior-Clausen disease (ORDO: Orphanet_239)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 11Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM18308
Cell line databases/resources CLO; CLO_0031033
Encyclopedic resources Wikidata; Q54849486
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12