ID   FAMRCi011-A
AC   CVCL_B5H4
SY   ARVC51
DR   BioSamples; SAMEA9687267
DR   hPSCreg; FAMRCi011-A
DR   Wikidata; Q110432800
RX   PubMed=39315490;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3756; FLNC; Simple; p.Arg1267Gln (c.3800G>A); ClinVar=VCV000539409; Zygosity=Heterozygous (PubMed=39315490).
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C183309; Familial restrictive cardiomyopathy 5
DI   ORDO; Orphanet_75249; Familial isolated restrictive cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_B5H5 ! FAMRCi011-B
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 10-04-25; Version: 6
//
RX   PubMed=39315490; DOI=10.1002/cm.21922;
RA   Klimenko E.S., Zaytseva A.K., Sorokina M.Y., Perepelina K.I.,
RA   Rodina N.L., Nikitina E.G., Sukhareva K.S., Khudiakov A.A.,
RA   Vershinina T.L., Muravyev A.S., Mikhaylov E.N., Pervunina T.M.,
RA   Vasichkina E.S., Kostareva A.A.;
RT   "Distinct molecular features of FLNC mutations, associated with
RT   different clinical phenotypes.";
RL   Cytoskeleton 82:158-174(2025).
//