ID   SCVIi026-A
AC   CVCL_B5FM
DR   hPSCreg; SCVIi026-A
DR   Wikidata; Q110433212
RX   PubMed=34856468;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: East Asian.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; p.Glu1784Lys (c.5350G>A) (p.Glu1783Lys, c.5347G>A); ClinVar=VCV000009377; Zygosity=Heterozygous (PubMed=34856468).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34856468
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 9,12
ST   D16S539: 9
ST   D18S51: 14,17
ST   D19S433: 12,13
ST   D21S11: 28.2,29.2
ST   D2S1338: 18,25
ST   D3S1358: 16,17
ST   D5S818: 11,13
ST   D7S820: 11,12
ST   D8S1179: 10,11
ST   FGA: 19,21
ST   TH01: 8
ST   TPOX: 7,10
ST   vWA: 14,17
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34856468; DOI=10.1016/j.scr.2021.102605;
RA   Belbachir N., Lai C., Rhee J.-W., Zhuge Y., Perez M.V., Sallam K.,
RA   Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from Brugada
RT   syndrome affected patients carrying SCN5A mutations.";
RL   Stem Cell Res. 57:102605-102605(2021).
//