ID   FAMRCi010-A
DR   BioSamples; SAMEA9687265
DR   hPSCreg; FAMRCi010-A
DR   Wikidata; Q110432799
RX   PubMed=34971931;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3756; FLNC; Simple; p.Gly2011Arg (c.6031G>A); ClinVar=VCV000472122; Zygosity=Heterozygous (PubMed=34971931).
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   Female
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
RX   PubMed=34971931; DOI=10.1016/j.scr.2021.102639;
RA   Perepelina K.I., Khudiakov A.A., Rodina N., Boytsov A., Vavilova T.,
RA   Zlotina A., Sokolnikova P., Kostareva A.A.;
RT   "Generation of iPSC line FAMRCi010-A from patient with restrictive
RT   cardiomyopathy carrying genetic variant FLNC p.Gly2011Arg.";
RL   Stem Cell Res. 59:102639-102639(2022).