ID   SCVIi016-A
AC   CVCL_A9AK
SY   SCVI-750; SCVI 750; SCVI750
DR   hPSCreg; SCVIi016-A
DR   Wikidata; Q108821281
RX   PubMed=34411974;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg192Cysfs*91 (c.573_577delGCGCT) (p.Arg65Cysfs*91, c.192_196delGCGCT); ClinVar=VCV000053072; Zygosity=Heterozygous (PubMed=34411974).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=34411974
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9,11
ST   D16S539: 11,12
ST   D18S51: 12,14.2
ST   D19S433: 14,15
ST   D21S11: 29,33.2
ST   D2S1338: 19,20
ST   D3S1358: 15,17
ST   D5S818: 11,12
ST   D7S820: 8
ST   D8S1179: 13,15
ST   FGA: 22,25
ST   TH01: 7,9.3
ST   TPOX: 8,10
ST   vWA: 17
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=34411974; DOI=10.1016/j.scr.2021.102492;
RA   Zhang H., Jahng J.W.S., Liu Y., Chase A.J., Perez M.V., Wu J.C.;
RT   "Generation of three induced pluripotent stem cell lines (SCVIi014-A,
RT   SCVIi015-A, and SCVIi016-A) from patients with LQT1 caused by
RT   heterozygous mutations in the KCNQ1 gene.";
RL   Stem Cell Res. 55:102492-102492(2021).
//