ID   INSRMi011-A
AC   CVCL_A8LS
SY   CPVT_P16_PhyMedExp
DR   hPSCreg; INSRMi011-A
DR   Wikidata; Q108820548
RX   PubMed=35245853;
CC   From: INSERM; Paris; France.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Arg169Pro (c.506G>C); Zygosity=Heterozygous (PubMed=35245853).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C123414; Catecholaminergic polymorphic ventricular tachycardia type 1
DI   ORDO; Orphanet_3286; Catecholaminergic polymorphic ventricular tachycardia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35245853; DOI=10.1016/j.scr.2022.102727;
RA   Colombani S., Bernardin A.A., Vincenti M., Amedro P., Desprat R.,
RA   Bernex F., Lemaitre J.-M., Pasquie J.-L., Lacampagne A., Meli A.C.;
RT   "Generation of catecholaminergic polymorphic ventricular tachycardia
RT   patient-specific induced pluripotent stem cell line.";
RL   Stem Cell Res. 60:102727-102727(2022).
//