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Cellosaurus UMGi041-B.2 (CVCL_A4KZ)

[Text version]
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; 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 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
Li W., Henze S., Luo X.-J., Ulbricht Y., Richter A., Di Donato N., Wilde A.A.M., Guan K.-M.
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)

Cross-references
Cell line databases/resources hPSCreg; UMGi041-B
Encyclopedic resources Wikidata; Q105511485
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5