Cellosaurus cell line UTA.00211.LQT1 (CVCL

Cellosaurus UTA.00211.LQT1 (CVCL_RN18)

Cross-references
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; 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
Publications	PubMed=28785673; DOI=10.1016/j.ijcha.2015.04.008; PMCID=PMC5497295 Anna L. Kiviaho, Antti Ahola, Kim Larsson, Kirsi Penttinen, Heikki Swan, Mari Pekkanen-Mattila, Henna Venalainen, Kiti Paavola, Jari Aarne Kalevi Hyttinen, Katriina Aalto-Setala; 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; PMCID=PMC4771667 Jukka Kuusela, Ville J. Kujala, Anna L. Kiviaho, Marisa Ojala, Heikki Swan, Kimmo Kaleva Kontula, Katriina Aalto-Setala; 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 creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10