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; HGNC:9024; PKP2; Simple; p.Tyr119Metfs*23 (c.354delT); Zygosity=Heterozygous (from autologous cell line FAMRCi001-A).
CC   Sequence variation: Mutation; HGNC; HGNC:9024; PKP2; Simple; p.Lys859Arg (c.2576A>G); Zygosity=Heterozygous (from autologous cell line FAMRCi001-A).
CC   Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
CC   Cell type: Mesenchymal stem cell of adipose tissue; CL=CL_0002570.
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 (Human)
OI   CVCL_QX88 ! FAMRCi001-A
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 13
//
RX   PubMed=31221065; DOI=10.1134/S000629791903009X;
RA   Khudiakov, Aleksandr A.
RA   Smolina, Natalia A.
RA   Perepelina, Kseniya I.
RA   Malashicheva, Anna B.
RA   Kostareva, Anna A.
RT   "Extracellular microRNAs and mitochondrial DNA as potential biomarkers
RT   of arrhythmogenic cardiomyopathy.";
RL   Biochemistry (Mosk.) 84:272-282(2019).
//