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Cellosaurus UTA.14511.CPVT (CVCL_ZX62)

[Text version]
Cell line name UTA.14511.CPVT
Synonyms TAUi005-A
Accession CVCL_ZX62
Resource Identification Initiative To cite this cell line use: UTA.14511.CPVT (RRID:CVCL_ZX62)
Comments From: University of Tampere; Tampere; Finland.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 10484; RYR2; Simple; p.Pro2328Ser (c.6982C>T); ClinVar=VCV000012960; Zygosity=Unspecified (hPSCreg=TAUi005-A).
Disease Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414)
Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; TAUi005-A
Biological sample resources BioSamples; SAMEA6880681
Encyclopedic resources Wikidata; Q102115092
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6