ol of Medicine, Koc University; Istanbul; Turkey.
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:6998; MEFV; Simple; p.Met694Val (c.2080A>G); ClinVar=VCV000002538; Zygosity=Homozygous (PubMed=26987928).
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   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
//