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Cellosaurus ITXi011-A (CVCL_B5QC)

[Text version]
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; 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

PubMed=35101670; DOI=10.1016/j.scr.2022.102688
Cimarosti B., Canac R., De Waard S., Girardeau A., Gaignerie A., Derevier A., Forest V., Ronjat M., Le Marec H., Gourraud J.-B., Lemarchand P., De Waard M., Lamirault G., Gaborit N.
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)

Cell line databases/resources hPSCreg; ITXi011-A
Biological sample resources BioSamples; SAMEA11291325
Encyclopedic resources Wikidata; Q111733539
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number4