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Cellosaurus ITXi011-A (CVCL_B5QC)

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Cell line name ITXi011-A
Synonyms CPVT033
Accession CVCL_B5QC
Resource Identification Initiative To cite this cell line use: ITXi011-A (RRID:CVCL_B5QC)
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 Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 48Y
Category Induced pluripotent stem cell
Publications

PubMed=35101670; DOI=10.1016/j.scr.2022.102688
Bastien Cimarosti, Robin Canac, Stephan De Waard, Aurore Girardeau, Anne Gaignerie, Aude Derevier, Virginie Forest, Michel Ronjat, Herve Le Marec, Jean-Baptiste Gourraud, Patricia Lemarchand ...Show all 14 authors... , Michel De Waard, Guillaume Lamirault, Nathalie Gaborit; Show fewer authors
Generation of human induced pluripotent stem cell lines from three patients affected by catecholaminergic polymorphic ventricular tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene.
Stem Cell Res. 60:102688-102688(2022)

Cross-references
Cell line databases/resources hPSCreg; ITXi011-A
Biological sample resources BioSamples; SAMEA11291325
Encyclopedic resources Wikidata; Q111733539
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number5