ID   CIAUi003-A-1
AC   CVCL_C6P2
SY   BFC4-C; BFC4-CRISPR-corrected
DR   BioSamples; SAMEA112186035
DR   hPSCreg; CIAUi003-A-1
DR   Wikidata; Q117704246
CC   From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1513; CASQ2; Simple_corrected; p.Lys180Arg (c.539A>G); ClinVar=VCV000265850; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=CIAUi003-A-1).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148368; Catecholaminergic polymorphic ventricular tachycardia type 2
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_WM06 ! CIAUi003-A
SX   Female
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 29-06-23; Version: 2
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