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Cellosaurus UTA.00211.LQT1 (CVCL_RN18)

[Text version]
Cell line name UTA.00211.LQT1
Synonyms TAUi007-B
Accession CVCL_RN18
Resource Identification Initiative To cite this cell line use: UTA.00211.LQT1 (RRID:CVCL_RN18)
Comments From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly589Asp (c.1766G>A) (p.Gly462Asp, c.1385G>A); ClinVar=VCV000003140; Zygosity=Unspecified (PubMed=27026928; PubMed=28785673).
Disease Long QT syndrome 1 (NCIt: C85049)
Romano-Ward syndrome (ORDO: Orphanet_101016)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RN17 ! UTA.00208.LQT1
Sex of cell Female
Age at sampling 41Y
Category Induced pluripotent stem cell

PubMed=28785673; DOI=10.1016/j.ijcha.2015.04.008
Kiviaho A.L., Ahola A., Larsson K., Penttinen K., Swan H., Pekkanen-Mattila M., Venalainen H., Paavola K., Hyttinen J.A.K., Aalto-Setala K.
Distinct electrophysiological and mechanical beating phenotypes of long QT syndrome type 1-specific cardiomyocytes carrying different mutations.
Int. J. Cardiol. Heart Vasc. 8:19-31(2015)

PubMed=27026928; DOI=10.1186/s40064-016-1889-y
Kuusela J., Kujala V.J., Kiviaho A.L., Ojala M., Swan H., Kontula K., Aalto-Setala K.
Effects of cardioactive drugs on human induced pluripotent stem cell derived long QT syndrome cardiomyocytes.
SpringerPlus 5:234.1-234.13(2016)

Cell line databases/resources hPSCreg; TAUi007-B
Biological sample resources BioSamples; SAMEA8549178
Encyclopedic resources Wikidata; Q54992203
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number9