ID   UTA.14511.CPVT
AC   CVCL_ZX62
SY   TAUi005-A
DR   BioSamples; SAMEA6880681
DR   hPSCreg; TAUi005-A
DR   Wikidata; Q102115092
CC   From: University of Tampere; Tampere; Finland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Pro2328Ser (c.6982C>T); ClinVar=VCV000012960; Zygosity=Unspecified (hPSCreg).
CC   Derived from sampling site: Skin.
DI   NCIt; C123414; Catecholaminergic polymorphic ventricular tachycardia type 1
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 20-05-21; Version: 3
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