ID   UTA.00118.LQT1
AC   CVCL_A8PH
SY   TAUi006-B
DR   BioSamples; SAMEA8549176
DR   hPSCreg; TAUi006-B
DR   Wikidata; Q108821467
RX   PubMed=28785673;
CC   From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; c.1129-2A>G (IVS7-2A>G); Zygosity=Unspecified; Note=Splice acceptor mutation (PubMed=28785673).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_A8PG ! UTA.00102.LQT1
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 17-03-22; Version: 3
//
RX   PubMed=28785673; DOI=10.1016/j.ijcha.2015.04.008;
RA   Kiviaho A.L., Ahola A., Larsson K., Penttinen K., Swan H.,
RA   Pekkanen-Mattila M., Venalainen H., Paavola K., Hyttinen J.,
RA   Aalto-Setala K.;
RT   "Distinct electrophysiological and mechanical beating phenotypes of
RT   long QT syndrome type 1-specific cardiomyocytes carrying different
RT   mutations.";
RL   Int. J. Cardiol. Heart Vasc. 8:19-31(2015).
//