Cellosaurus cell line RAUi002-A (CVCL

Cross-references
Cell line name	RAUi002-A
Accession	CVCL_E4EL
Resource Identification Initiative	To cite this cell line use: RAUi002-A (RRID:CVCL_E4EL)
Comments	From: Russian-Armenian University; Yerevan; Armenia. Population: Caucasian; Armenian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6998; MEFV; Simple; p.Met694Val (c.2080A>G); ClinVar=VCV000002538; Zygosity=Homozygous (PubMed=38892289).
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	20Y
Category	Induced pluripotent stem cell
Publications	PubMed=38892289; DOI=10.3390/ijms25116102; PMCID=PMC11173119 Grigor'eva E.V., Karapetyan L.V., Malakhova A.A., Medvedev S.P., Minina J.M., Hayrapetyan V.H., Vardanyan V.S., Zakian S.M., Arakelyan A., Zakharyan R. Generation of iPSCs from a patient with the M694V mutation in the MEFV gene associated with familial Mediterranean fever and their differentiation into macrophages. Int. J. Mol. Sci. 25:6102.1-6102.13(2024)
Cell line databases/resources	hPSCreg; RAUi002-A
Biological sample resources	BioSamples; SAMEA115177875
Entry history
Entry creation	19-Dec-2024
Last entry update	19-Dec-2024
Version number	1