ID   UTA.05208.CPVT
AC   CVCL_RN15
SY   TAUi004-A
DR   BioSamples; SAMEA6880680
DR   hPSCreg; TAUi004-A
DR   SKIP; SKIP001417
DR   Wikidata; Q54992211
RX   PubMed=22962621;
CC   From: Institute of Biomedical Technology, University of Tampere; Tampere; Finland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Pro2328Ser (c.6982C>T); ClinVar=VCV000012960; Zygosity=Unspecified (PubMed=22962621).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123414; Catecholaminergic polymorphic ventricular tachycardia type 1
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RN14 ! UTA.05203.CPVT
SX   Male
AG   25Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=22962621; DOI=10.1371/journal.pone.0044660; PMCID=PMC3433449;
RA   Kujala, Kirsi
RA   Paavola, Jere
RA   Lahti, Anna L.
RA   Larsson, Kim
RA   Pekkanen-Mattila, Mari
RA   Viitasalo, Matti
RA   Lahtinen, Annukka M.
RA   Toivonen, Lauri
RA   Kontula, Kimmo Kaleva
RA   Swan, Heikki
RA   Laine, Mika
RA   Silvennoinen, Olli
RA   Aalto-Setala, Katriina
RT   "Cell model of catecholaminergic polymorphic ventricular tachycardia
RT   reveals early and delayed afterdepolarizations.";
RL   PLoS ONE 7:e44660.1-e44660.10(2012).
//