ID   UTA.00525.LQT2
AC   CVCL_RN22
DR   Wikidata; Q54992207
RX   PubMed=22052944;
RX   PubMed=23119085;
RX   PubMed=27026928;
CC   From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Arg176Trp (c.526C>T); ClinVar=VCV000067509; Zygosity=Unspecified (PubMed=22052944; PubMed=27026928).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RN21 ! UTA.00514.LQT2
SX   Male
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
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RX   PubMed=22052944; DOI=10.1242/dmm.008409; PMCID=PMC3291643;
RA   Lahti A.L., Kujala V.J., Chapman H., Koivisto A.-P.,
RA   Pekkanen-Mattila M., Kerkela E., Hyttinen J.A.K., Kontula K., Swan H.,
RA   Conklin B.R., Yamanaka S., Silvennoinen O., Aalto-Setala K.;
RT   "Model for long QT syndrome type 2 using human iPS cells demonstrates
RT   arrhythmogenic characteristics in cell culture.";
RL   Dis. Model. Mech. 5:220-230(2012).
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RX   PubMed=23119085; DOI=10.1371/journal.pone.0048659; PMCID=PMC3485380;
RA   Ojala M., Rajala K., Pekkanen-Mattila M., Miettinen M., Huhtala H.,
RA   Aalto-Setala K.;
RT   "Culture conditions affect cardiac differentiation potential of human
RT   pluripotent stem cells.";
RL   PLoS ONE 7:E48659-E48659(2012).
//
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).
//