ID   iSCN5A
AC   CVCL_A4LH
DR   Wikidata; Q105509709
RX   PubMed=22647976;
RX   PubMed=27485484;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Glu1795_Ile1796insAsp (c.5382_5384dupTGA) (1795insD); ClinVar=VCV000009382; Zygosity=Unspecified (PubMed=22647976).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142891; Brugada syndrome
DI   NCIt; C137959; Long QT syndrome 3
DI   ORDO; Orphanet_130; Brugada syndrome
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=22647976; DOI=10.1161/CIRCULATIONAHA.111.066092;
RA   Davis R.P., Casini S., van den Berg C.W., Hoekstra M., Remme C.A.,
RA   Dambrot C., Salvatori D.C.F., Ward-van Oostwaard D., Wilde A.A.M.,
RA   Bezzina C.R., Verkerk A.O., Freund C.M.A.H., Mummery C.L.;
RT   "Cardiomyocytes derived from pluripotent stem cells recapitulate
RT   electrophysiological characteristics of an overlap syndrome of cardiac
RT   sodium channel disease.";
RL   Circulation 125:3079-3091(2012).
//
RX   PubMed=27485484; DOI=10.1038/srep30967; PMCID=PMC4971529;
RA   Veerman C.C., Mengarelli I., Guan K.-M., Stauske M., Barc J., Tan H.L.,
RA   Wilde A.A.M., Verkerk A.O., Bezzina C.R.;
RT   "hiPSC-derived cardiomyocytes from Brugada syndrome patients without
RT   identified mutations do not exhibit clear cellular
RT   electrophysiological abnormalities.";
RL   Sci. Rep. 6:30967-30967(2016).
//