ID   SCVIi077-A
AC   CVCL_C7YF
DR   BioSamples; SAMEA114260323
DR   hPSCreg; SCVIi077-A
DR   Wikidata; Q123033417
RX   PubMed=37210947;
CC   From: Stanford Cardiovascular Institute; Palo Alto; USA.
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Lys34Gln (c.100A>C); ClinVar=VCV000235050; Zygosity=Heterozygous (PubMed=37210947).
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   24Y
CA   Induced pluripotent stem cell
DT   Created: 29-06-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=37210947; DOI=10.1016/j.scr.2023.103111; PMCID=PMC11059235;
RA   Kong X.-H., Belbachir N., Zeng W.-S., Yan C.D., Navada S., Perez M.V.,
RA   Wu J.C.;
RT   "Generation of two induced pluripotent stem cell lines from
RT   catecholaminergic polymorphic ventricular tachycardia patients
RT   carrying RYR2 mutations.";
RL   Stem Cell Res. 69:103111-103111(2023).
//