ID   UTA.00211.LQT1
AC   CVCL_RN18
SY   TAUi007-B
DR   BioSamples; SAMEA8549178
DR   hPSCreg; TAUi007-B
DR   Wikidata; Q54992203
RX   PubMed=27026928;
RX   PubMed=28785673;
CC   From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly589Asp (c.1766G>A) (p.Gly462Asp, c.1385G>A); ClinVar=VCV000003140; Zygosity=Unspecified (PubMed=27026928; 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_RN17 ! UTA.00208.LQT1
SX   Female
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 17-03-22; Version: 7
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RX   PubMed=27026928; DOI=10.1186/s40064-016-1889-y;
RA   Kuusela J., Kujala V.J., Kiviaho A.L., Ojala M., Swan H., Kontula K.,
RA   Aalto-Setala K.;
RT   "Effects of cardioactive drugs on human induced pluripotent stem cell
RT   derived long QT syndrome cardiomyocytes.";
RL   SpringerPlus 5:234.1-234.13(2016).
//
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).
//