ID   RAUi002-A
AC   CVCL_E4EL
DR   BioSamples; SAMEA115177875
DR   hPSCreg; RAUi002-A
RX   PubMed=38892289;
CC   From: Russian-Armenian University; Yerevan; Armenia.
CC   Population: Caucasian; Armenian.
CC   Sequence variation: Mutation; HGNC; HGNC:6998; MEFV; Simple; p.Met694Val (c.2080A>G); ClinVar=VCV000002538; Zygosity=Homozygous (PubMed=38892289).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84707; Familial Mediterranean fever
DI   ORDO; Orphanet_342; Familial Mediterranean fever
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=38892289; DOI=10.3390/ijms25116102; PMCID=PMC11173119;
RA   Grigor'eva E.V., Karapetyan L.V., Malakhova A.A., Medvedev S.P.,
RA   Minina J.M., Hayrapetyan V.H., Vardanyan V.S., Zakian S.M., Arakelyan A.,
RA   Zakharyan R.;
RT   "Generation of iPSCs from a patient with the M694V mutation in the
RT   MEFV gene associated with familial Mediterranean fever and their
RT   differentiation into macrophages.";
RL   Int. J. Mol. Sci. 25:6102.1-6102.13(2024).
//