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Cellosaurus LUMCi021-A (CVCL_ZA15)

[Text version]
Cell line name LUMCi021-A
Synonyms LUMC0160iRYR01
Accession CVCL_ZA15
Resource Identification Initiative To cite this cell line use: LUMCi021-A (RRID:CVCL_ZA15)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
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.Tyr4962Cys (c.14885A>G); ClinVar=VCV000201405; Zygosity=Heterozygous (PubMed=32315959).
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)
Sex of cell Male
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=32315959; DOI=10.1016/j.scr.2020.101764
Meraviglia V., Arendzen C.H., Freund C.M.A.H., Atsma D.E., Mummery C.L., Bellin M.
Generation of two human induced pluripotent stem cell lines, LUMCi020-A and LUMCi021-A, from two patients with catecholaminergic polymorphic ventricular tachycardia carrying heterozygous mutations in the RYR2 gene.
Stem Cell Res. 45:101764-101764(2020)

Cross-references
Cell line databases/resources hPSCreg; LUMCi021-A
Encyclopedic resources Wikidata; Q98127064
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number6