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Cellosaurus GM18666 (CVCL_AB23)

[Text version]
Cell line name GM18666
Accession CVCL_AB23
Resource Identification Initiative To cite this cell line use: GM18666 (RRID:CVCL_AB23)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Asn540Lys (c.1620C>A); ClinVar=VCV000016337; Zygosity=Heterozygous (Coriell=GM18666).
Disease Hypochondroplasia (NCIt: C118697)
Hypochondroplasia (ORDO: Orphanet_429)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM18666
Cell line databases/resources CLO; CLO_0026190
Encyclopedic resources Wikidata; Q54849751
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12