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Cellosaurus UTA.00118.LQT1 (CVCL_A8PH)

[Text version]
Cell line name UTA.00118.LQT1
Synonyms TAUi006-B
Accession CVCL_A8PH
Resource Identification Initiative To cite this cell line use: UTA.00118.LQT1 (RRID:CVCL_A8PH)
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; HGNC:6294; KCNQ1; Simple; c.1129-2A>G (IVS7-2A>G); dbSNP=rs768022350; Zygosity=Unspecified; Note=Splice acceptor mutation (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_A8PG ! UTA.00102.LQT1
Sex of cell Female
Age at sampling 51Y
Category Induced pluripotent stem cell
Publications

PubMed=28785673; DOI=10.1016/j.ijcha.2015.04.008; PMCID=PMC5497295
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)

Cross-references
Cell line databases/resources hPSCreg; TAUi006-B
Biological sample resources BioSamples; SAMEA8549176
Encyclopedic resources Wikidata; Q108821467
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7