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Cellosaurus CIAUi003-A (CVCL_WM06)

[Text version]
Cell line name CIAUi003-A
Synonyms BFC4; MCCIi005-A-1
Accession CVCL_WM06
Resource Identification Initiative To cite this cell line use: CIAUi003-A (RRID:CVCL_WM06)
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; p.Lys180Arg (c.539A>G); ClinVar=VCV000265850; Zygosity=Heterozygous (PubMed=31039485).
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 Children:
CVCL_C6P2 (CIAUi003-A-1)
Sex of cell Female
Age at sampling 40Y
Category Induced pluripotent stem cell
Publications

PubMed=31039485; DOI=10.1016/j.scr.2019.101450
Ross S., Holliday M., Lim S., Semsarian C.
Characterization of the first induced pluripotent stem cell line generated from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia due to a heterozygous mutation in cardiac calsequestrin-2.
Stem Cell Res. 37:101450-101450(2019)

Cross-references
Cell line databases/resources hPSCreg; CIAUi003-A
Biological sample resources BioSamples; SAMEA112186036
Encyclopedic resources Wikidata; Q95985819
Entry history
Entry creation24-May-2019
Last entry update29-Jun-2023
Version number7