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Cellosaurus ITXi010-A (CVCL_B5QB)

[Text version]
Cell line name ITXi010-A
Synonyms CPVT249
Accession CVCL_B5QB
Resource Identification Initiative To cite this cell line use: ITXi010-A (RRID:CVCL_B5QB)
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.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 Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; ITXi010-A
Biological sample resources BioSamples; SAMEA11291310
Encyclopedic resources Wikidata; Q111733538
Entry history
Entry creation17-Mar-2022
Last entry update29-Jun-2023
Version number4