ID   FAMRCi001-A
AC   CVCL_QX88
DR   BioSamples; SAMEA104387930
DR   hPSCreg; FAMRCi001-A
DR   Wikidata; Q54833241
RX   PubMed=29034900;
RX   PubMed=31221065;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple; p.Tyr119Metfs*23 (c.354delT); Zygosity=Heterozygous (PubMed=29034900).
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple; p.Lys859Arg (c.2576A>G); Zygosity=Heterozygous (PubMed=29034900).
CC   Derived from sampling site: Adipose mesenchymal stem cells.
DI   NCIt; C173471; Familial arrhythmogenic right ventricular dysplasia 9
DI   ORDO; Orphanet_217656; Familial isolated arrhythmogenic right ventricular dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_VD62 ! FAMRCi001-B
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 20-05-21; Version: 9
//
RX   PubMed=29034900; DOI=10.1016/j.scr.2017.08.014;
RA   Khudiakov A., Kostina D., Zlotina A., Yany N., Sergushichev A.,
RA   Pervunina T., Tomilin A., Kostareva A., Malashicheva A.;
RT   "Generation of iPSC line from patient with arrhythmogenic right
RT   ventricular cardiomyopathy carrying mutations in PKP2 gene.";
RL   Stem Cell Res. 24:85-88(2017).
//
RX   PubMed=31221065; DOI=10.1134/S000629791903009X;
RA   Khudiakov A.A., Smolina N.A., Perepelina K.I., Malashicheva A.B.,
RA   Kostareva A.A.;
RT   "Extracellular microRNAs and mitochondrial DNA as potential biomarkers
RT   of arrhythmogenic cardiomyopathy.";
RL   Biochemistry (Mosk.) 84:272-282(2019).
//