Home  |  Contact

Cellosaurus INSRMi011-A (CVCL_A8LS)

[Text version]
Cell line name INSRMi011-A
Synonyms CPVT_P16_PhyMedExp
Accession CVCL_A8LS
Resource Identification Initiative To cite this cell line use: INSRMi011-A (RRID:CVCL_A8LS)
Comments From: INSERM; Paris; France.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 10484; RYR2; Simple; p.Arg169Pro (c.506G>C); Zygosity=Heterozygous (PubMed=35245853).
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 Male
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=35245853; DOI=10.1016/j.scr.2022.102727
Colombani S., Bernardin A.A., Vincenti M., Amedro P., Desprat R., Bernex F., Lemaitre J.-M., Pasquie J.-L., Lacampagne A., Meli A.C.
Generation of catecholaminergic polymorphic ventricular tachycardia patient-specific induced pluripotent stem cell line.
Stem Cell Res. 60:102727-102727(2022)

Cross-references
Cell line databases/resources hPSCreg; INSRMi011-A
Encyclopedic resources Wikidata; Q108820548
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5