ID   UTA.00313.LQT1
AC   CVCL_RN20
DR   Wikidata; Q54992205
RX   PubMed=27026928;
CC   From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Gly589Asp (c.1766G>A) (p.Gly462Asp, c.1385G>A); ClinVar=VCV000003140; Zygosity=Unspecified (PubMed=27026928).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RN19 ! UTA.00303.LQT1
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=27026928; DOI=10.1186/s40064-016-1889-y; PMCID=PMC4771667;
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).
//