ID   UTA.00102.LQT1
AC   CVCL_A8PG
SY   TAUi006-A
DR   BioSamples; SAMEA8549174
DR   hPSCreg; TAUi006-A
DR   Wikidata; Q108821466
RX   PubMed=28785673;
CC   From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; c.1129-2A>G (IVS7-2A>G); dbSNP=rs768022350; Zygosity=Unspecified; Note=Splice acceptor mutation (PubMed=28785673).
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_A8PH ! UTA.00118.LQT1
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
//
RX   PubMed=28785673; DOI=10.1016/j.ijcha.2015.04.008; PMCID=PMC5497295;
RA   Kiviaho, Anna L.
RA   Ahola, Antti
RA   Larsson, Kim
RA   Penttinen, Kirsi
RA   Swan, Heikki
RA   Pekkanen-Mattila, Mari
RA   Venalainen, Henna
RA   Paavola, Kiti
RA   Hyttinen, Jari Aarne Kalevi
RA   Aalto-Setala, Katriina
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).
//