ID   FAMRCi004-A
AC   CVCL_WP82
SY   DSPL1
DR   BioSamples; SAMEA6260535
DR   hPSCreg; FAMRCi004-A
DR   SKIP; SKIP005860
DR   Wikidata; Q93549748
RX   PubMed=32062131;
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Sequence variation: Mutation; 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_WP83 ! FAMRCi004-B
SX   Male
AG   19Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 05-10-23; Version: 11
//
RX   PubMed=32062131; DOI=10.1016/j.scr.2020.101720;
RA   Khudiakov A.A., Perepelina K.I., Klauzen P., Zlotina A., Gusev K.,
RA   Kaznacheyeva E., Malashicheva A.B., Kostareva A.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).
//