ID   UMGi041-B.3
AC   CVCL_A5QG
SY   UMGi041-B clone 3; isCPVTA2254V1-3
DR   hPSCreg; UMGi041-B
DR   Wikidata; Q107117267
RX   PubMed=33640691;
WW   https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=59
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Ala2254Val (c.6761C>T); Zygosity=Heterozygous (PubMed=33640691).
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)
OI   CVCL_A4KY ! UMGi041-A
OI   CVCL_A4KZ ! UMGi041-B.2
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33640691; DOI=10.1016/j.scr.2021.102259;
RA   Li W., Henze S., Luo X.-J., Ulbricht Y., Richter A., Di Donato N.,
RA   Wilde A.A.M., Guan K.-M.;
RT   "Generation of iPSC lines from CPVT patient carrying heterozygous
RT   mutation p.A2254V in the ryanodine receptor 2 gene.";
RL   Stem Cell Res. 53:102259-102259(2021).
//