Cellosaurus cell line UMGi041-B.2 (CVCL

Cross-references
Cell line name	UMGi041-B.2
Synonyms	UMGi041-B clone 2; isCPVTA2254V1-2
Accession	CVCL_A4KZ
Resource Identification Initiative	To cite this cell line use: UMGi041-B.2 (RRID:CVCL_A4KZ)
Comments	From: University Medical Center Goettingen; Goettingen; Germany. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:10484; RYR2; Simple; p.Ala2254Val (c.6761C>T); Zygosity=Heterozygous (PubMed=33640691).
Disease	Catecholaminergic polymorphic ventricular tachycardia type 1 (NCIt: C123414) Catecholaminergic polymorphic ventricular tachycardia (ORDO: Orphanet_3286)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_A4KY ! UMGi041-A CVCL_A5QG ! UMGi041-B.3
Sex of cell	Male
Age at sampling	40Y
Category	Induced pluripotent stem cell
Web pages	Provider; UMCG; -; https://sfb1002.med.uni-goettingen.de/production/cellmodel/cell-line/view?tab=internal&line=59
Publications	PubMed=33640691; DOI=10.1016/j.scr.2021.102259 Wener Li, Sarah Henze, Xiao-Jing Luo, Ying Ulbricht, Anja Richter, Nataliya Di Donato, Arthur A.M. Wilde, Kao-Mei Guan; Generation of iPSC lines from CPVT patient carrying heterozygous mutation p.A2254V in the ryanodine receptor 2 gene. Stem Cell Res. 53:102259-102259(2021)
Cell line databases/resources	hPSCreg; UMGi041-B
Encyclopedic resources	Wikidata; Q105511485
Entry history
Entry creation	12-Jan-2021
Last entry update	10-Apr-2025
Version number	7