Cellosaurus logo
expasy logo

Cellosaurus UTA.00313.LQT1 (CVCL_RN20)

[Text version]
Cell line name UTA.00313.LQT1
Accession CVCL_RN20
Resource Identification Initiative To cite this cell line use: UTA.00313.LQT1 (RRID:CVCL_RN20)
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; p.Gly589Asp (c.1766G>A) (p.Gly462Asp, c.1385G>A); ClinVar=VCV000003140; Zygosity=Unspecified (PubMed=27026928).
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_RN19 ! UTA.00303.LQT1
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=27026928; DOI=10.1186/s40064-016-1889-y; PMCID=PMC4771667
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)

Cross-references
Encyclopedic resources Wikidata; Q54992205
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10