ID   SCVIi064-A
AC   CVCL_C1SB
SY   SCVI-2234; SCVI 2234; SCVI2234; SCVIi2234
DR   hPSCreg; SCVIi064-A
DR   Wikidata; Q114312978
RX   PubMed=36332467;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 16882; HCN4; Simple; p.Arg949Gln (c.2846G>A); ClinVar=VCV000933551; Zygosity=Heterozygous (PubMed=36332467).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 22-09-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=36332467; DOI=10.1016/j.scr.2022.102951;
RA   Yildirim Z., Kojic A., Yan C.D., Wu M.A., Vagelos R., Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from dilated
RT   cardiomyopathy patients caused by heterozygous mutations in the HCN4
RT   gene.";
RL   Stem Cell Res. 65:102951-102951(2022).
//