ID   ITXi010-A
AC   CVCL_B5QB
SY   CPVT249
DR   BioSamples; SAMEA11291310
DR   hPSCreg; ITXi010-A
DR   Wikidata; Q111733538
RX   PubMed=35101670;
CC   From: Institut du Thorax; Nantes; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Tyr2476Asp (c.7426T>G); Zygosity=Heterozygous (PubMed=35101670).
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   Female
AG   27Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35101670; DOI=10.1016/j.scr.2022.102688;
RA   Cimarosti B., Canac R., De Waard S., Girardeau A., Gaignerie A.,
RA   Derevier A., Forest V., Ronjat M., Le Marec H., Gourraud J.-B.,
RA   Lemarchand P., De Waard M., Lamirault G., Gaborit N.;
RT   "Generation of human induced pluripotent stem cell lines from three
RT   patients affected by catecholaminergic polymorphic ventricular
RT   tachycardia (CPVT) carrying heterozygous mutations in RYR2 gene.";
RL   Stem Cell Res. 60:102688-102688(2022).
//