ID   LUMCi021-A
AC   CVCL_ZA15
SY   LUMC0160iRYR01
DR   hPSCreg; LUMCi021-A
DR   Wikidata; Q98127064
RX   PubMed=32315959;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Tyr4962Cys (c.14885A>G); ClinVar=VCV000201405; Zygosity=Heterozygous (PubMed=32315959).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   49Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 6
//
RX   PubMed=32315959; DOI=10.1016/j.scr.2020.101764;
RA   Meraviglia V., Arendzen C.H., Freund C.M.A.H., Atsma D.E.,
RA   Mummery C.L., Bellin M.;
RT   "Generation of two human induced pluripotent stem cell lines,
RT   LUMCi020-A and LUMCi021-A, from two patients with catecholaminergic
RT   polymorphic ventricular tachycardia carrying heterozygous mutations in
RT   the RYR2 gene.";
RL   Stem Cell Res. 45:101764-101764(2020).
//