ID   FAMRCi009-A
AC   CVCL_B5H7
SY   RCMP43
DR   BioSamples; SAMEA9687263
DR   hPSCreg; FAMRCi009-A
DR   Wikidata; Q110432798
RX   PubMed=34971933;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; 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: 29-06-23; Version: 4
//
RX   PubMed=34971933; DOI=10.1016/j.scr.2021.102640;
RA   Rodina N., Khudiakov A.A., Perepelina K.I., Muravyev A., 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).
//