ID   UMGi041-A
AC   CVCL_A4KY
DR   hPSCreg; UMGi041-A
DR   Wikidata; Q105511483
WW   https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=58
CC   From: University Medical Center Goettingen; Goettingen; Germany.
CC   Sequence variation: Mutation; HGNC; 10484; RYR2; Simple; p.Ala2254Val (c.6761C>T); Zygosity=Heterozygous (from autologous cell lines UMGi041-B.2; UMGi041-B.3).
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_A4KZ ! UMGi041-B.2
OI   CVCL_A5QG ! UMGi041-B.3
SX   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 02-05-24; Version: 7
//