ID   FMMUNIi003-A
AC   CVCL_E3XB
SY   I-CPVT
DR   BioSamples; SAMEA115853744
DR   hPSCreg; FMMUNIi003-A
CC   From: Faculty of Medicine, Masaryk University; Brno; Czech Republic.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Tyr4734Cys (c.14201A>G); ClinVar=VCV000960225; Zygosity=Unspecified (hPSCreg=FMMUNIi003-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123414; Catecholaminergic polymorphic ventricular tachycardia type 1
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   50-54Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 19-12-24; Version: 1
//