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Cellosaurus (CVCL_D3Q4)

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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.Arg4959Glu (c.14876G>A); 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 48Y
Category Induced pluripotent stem cell
Publications


Mohammed R. Shaker, Ernst J. Wolvetang, Lata Vadlamudi;
Human induced pluripotent stem cells generated from epilepsy patients for use as in vitro models for drug screening.
Stem Cell Res. 60:102673-102673(2022)

Cross-references
Cell line databases/resources hPSCreg; ITXi011-A
Encyclopedic resources Wikidata; Q111733539
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5