ID   SCVIi063-A
AC   CVCL_C1SA
SY   SCVI-2020; SCVI 2020; SCVI2020; SCVIi2020
DR   hPSCreg; SCVIi063-A
DR   Wikidata; Q114312977
RX   PubMed=36332467;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Sequence variation: Mutation; HGNC; 16882; HCN4; Simple; p.Ala863Ser (c.2587G>T); ClinVar=VCV000573236; 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   Female
AG   54Y
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).
//