ID   FAMRCi004-B
AC   CVCL_WP83
SY   DSPL10
DR   BioSamples; SAMEA6276783
DR   hPSCreg; FAMRCi004-B
DR   SKIP; SKIP005858
DR   Wikidata; Q93549754
RX   PubMed=32062131;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Sequence variation: Mutation; HGNC; HGNC:3052; DSP; Simple; p.His1684Arg (c.5051A>G); ClinVar=VCV000431487; Zygosity=Heterozygous (PubMed=32062131).
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; C62244; Sick sinus syndrome
DI   NCIt; C126651; Progressive familial heart block, type Ia
DI   ORDO; Orphanet_166282; Familial sick sinus syndrome
DI   ORDO; Orphanet_871; Familial progressive cardiac conduction defect
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WP82 ! FAMRCi004-A
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 12
//
RX   PubMed=32062131; DOI=10.1016/j.scr.2020.101720;
RA   Khudiakov, Aleksandr A.
RA   Perepelina, Kseniya I.
RA   Klauzen, Polina
RA   Zlotina, Anna
RA   Gusev, Konstantin
RA   Kaznacheyeva, Elena
RA   Malashicheva, Anna B.
RA   Kostareva, Anna A.
RT   "Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from
RT   patient with familial progressive cardiac conduction disorder carrying
RT   genetic variant DSP p.His1684Arg.";
RL   Stem Cell Res. 43:101720-101720(2020).
//