ID   FAMRCi009-A
AC   CVCL_B5H7
SY   RCMP43
DR   BioSamples; SAMEA9687263
DR   hPSCreg; FAMRCi009-A
DR   Wikidata; Q110432798
RX   PubMed=34971933;
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.Val2297Met (c.6889G>A) (p.Val2264Met, c.6790G>A); ClinVar=VCV000641618; Zygosity=Heterozygous (PubMed=34971933).
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)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 19-12-24; Version: 5
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RX   PubMed=34971933; DOI=10.1016/j.scr.2021.102640;
RA   Rodina N.L., Khudiakov A.A., Perepelina K.I., Muravyev A.S., Boytsov A.,
RA   Zlotina A., Sokolnikova P., Kostareva A.A.;
RT   "Generation of iPSC line (FAMRCi009-A) from patient with familial
RT   progressive cardiac conduction disorder carrying genetic variant FLNC
RT   p.Val2264Met.";
RL   Stem Cell Res. 59:102640-102640(2022).
//
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).
//