Cellosaurus logo
expasy logo

Cellosaurus GM14978 (CVCL_9T92)

[Text version]
Cell line name GM14978
Accession CVCL_9T92
Resource Identification Initiative To cite this cell line use: GM14978 (RRID:CVCL_9T92)
Comments Population: Caucasian; Sicilian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6998; MEFV; Simple; p.Glu148Gln (c.442G>C); ClinVar=VCV000002542; Zygosity=Heterozygous (Coriell=GM14978).
Disease Familial Mediterranean fever (NCIt: C84707)
Familial Mediterranean fever (ORDO: Orphanet_342)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM14978
Cell line databases/resources CLO; CLO_0030292
Encyclopedic resources Wikidata; Q54847542
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number12