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Cellosaurus CIAUi003-A-1 (CVCL_C6P2)

[Text version]
Cell line name CIAUi003-A-1
Synonyms BFC4-C; BFC4-CRISPR-corrected
Accession CVCL_C6P2
Resource Identification Initiative To cite this cell line use: CIAUi003-A-1 (RRID:CVCL_C6P2)
Comments From: Molecular Cardiology, Centenary Institute of Cancer Medicine and Cell Biology; Camperdown; Australia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1513; CASQ2; Simple_corrected; p.Lys180Arg (c.539A>G); ClinVar=VCV000265850; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=CIAUi003-A-1).
Disease Catecholaminergic polymorphic ventricular tachycardia type 2 (NCIt: C148368)
Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_WM06 (CIAUi003-A)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CIAUi003-A-1
Biological sample resources BioSamples; SAMEA112186035
Encyclopedic resources Wikidata; Q117704246
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2