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Cellosaurus (CVCL_D3Q2)

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Comments From: Institut du Thorax; Nantes; France.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Tyr2476Asp (c.7426T>G); Zygosity=Heterozygous (PubMed=35101670).
Disease Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414)
Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
Category Induced pluripotent stem cell
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5