Cellosaurus cell line UTA.05203.CPVT (CVCL

Cross-references
Cell line name	UTA.05203.CPVT
Accession	CVCL_RN14
Resource Identification Initiative	To cite this cell line use: UTA.05203.CPVT (RRID:CVCL_RN14)
Comments	From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Pro2328Ser (c.6982C>T); ClinVar=VCV000012960; Zygosity=Unspecified (PubMed=22962621).
Disease	Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414) Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_RN15 ! UTA.05208.CPVT
Sex of cell	Male
Age at sampling	25Y
Category	Induced pluripotent stem cell
Publications	PubMed=22962621; DOI=10.1371/journal.pone.0044660; PMCID=PMC3433449 Kujala K., Paavola J., Lahti A.L., Larsson K., Pekkanen-Mattila M., Viitasalo M., Lahtinen A.M., Toivonen L., Kontula K., Swan H., Laine M., Silvennoinen O., Aalto-Setala K. Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed afterdepolarizations. PLoS ONE 7:E44660-E44660(2012)
Cell line databases/resources	SKIP; SKIP001416
Encyclopedic resources	Wikidata; Q54992210
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10