Cellosaurus cell line KU_FMF_iPSC_1 (CVCL

Cross-references
Cell line name	KU_FMF_iPSC_1
Accession	CVCL_9U21
Resource Identification Initiative	To cite this cell line use: KU_FMF_iPSC_1 (RRID:CVCL_9U21)
Comments	From: School of Medicine, Koc University; Istanbul; Turkey. Population: Turkish. 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.Met694Val (c.2080A>G); ClinVar=VCV000002538; Zygosity=Homozygous (PubMed=26987928).
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	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=26987928; DOI=10.1016/j.scr.2015.10.018 Kerem Fidan, Gulnihal Kavaklioglu, Ayyub Ebrahimi, Can Ozlu, Nur Zeynep Ay, Arzu Ruacan, Ahmet Gul, Tamer Tevfik Onder; Generation of integration-free induced pluripotent stem cells from a patient with familial Mediterranean fever (FMF). Stem Cell Res. 15:694-696(2015)
Encyclopedic resources	Wikidata; Q54900691
Entry history
Entry creation	23-Feb-2016
Last entry update	19-Dec-2024
Version number	12