ID   SCVIi123-A
AC   CVCL_E4F5
SY   SCVI-2176; SCVI 2176; SCVI2176
DR   BioSamples; SAMEA115580282
DR   hPSCreg; SCVIi123-A
RX   PubMed=39067410;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Arg222Gln (c.665G>A); ClinVar=VCV000039444; Zygosity=Heterozygous (PubMed=39067410).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C212862; Dilated cardiomyopathy-1E
DI   ORDO; Orphanet_154; Familial isolated dilated cardiomyopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   60-70Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//
RX   PubMed=39067410; DOI=10.1016/j.scr.2024.103498;
RA   Dexheimer R., Manhas A., Wu D., Tripathi D., Chan S.-Y., Li J., Yu R.,
RA   Sayed N., Wu J.C., Sallam K.;
RT   "Generation of two iPSC lines from dilated cardiomyopathy patients
RT   with pathogenic variants in the SCN5A gene.";
RL   Stem Cell Res. 80:103498-103498(2024).
//