ID   FAMRCi001-B
AC   CVCL_VD62
DR   BioSamples; SAMEA4675132
DR   hPSCreg; FAMRCi001-B
DR   Wikidata; Q54833242
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 (from autologous cell line).
CC   Sequence variation: Mutation; HGNC; 9024; PKP2; Simple; p.Lys859Arg (c.2576A>G); Zygosity=Heterozygous (from autologous cell line).
CC   Derived from sampling site: Cell type=Adipose mesenchymal stem cell.
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_QX88 ! FAMRCi001-A
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 16-12-21; Version: 8
//
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).
//