ID   GM14978
AC   CVCL_9T92
DR   CLO; CLO_0030292
DR   Coriell; GM14978
DR   Wikidata; Q54847542
CC   Population: Caucasian; Sicilian.
CC   Sequence variation: Mutation; HGNC; HGNC:6998; MEFV; Simple; p.Glu148Gln (c.442G>C); ClinVar=VCV000002542; Zygosity=Heterozygous (Coriell=GM14978).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84707; Familial Mediterranean fever
DI   ORDO; Orphanet_342; Familial Mediterranean fever
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
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