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Cellosaurus LUMCi027-A-1 (CVCL_ZA19)

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Cell line name LUMCi027-A-1
Synonyms iso01LUMC0153iPKP03; LUMC0153iPKP03corr#22
Accession CVCL_ZA19
Resource Identification Initiative To cite this cell line use: LUMCi027-A-1 (RRID:CVCL_ZA19)
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; HGNC:9024; PKP2; Simple_corrected; p.Lys672Argfs*12 (c.2013delC); ClinVar=VCV000202022; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32485643).
Disease Familial arrhythmogenic right ventricular dysplasia 9 (NCIt: C173471)
Familial isolated arrhythmogenic right ventricular dysplasia (ORDO: Orphanet_217656)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZA18 (LUMCi027-A)
Sex of cell Female
Age at sampling 41Y
Category Induced pluripotent stem cell
Publications

PubMed=32485643; DOI=10.1016/j.scr.2020.101835
Viviana Meraviglia, Christiaan H. Arendzen, Merve Tok, Christian M.A.H. Freund, Angela Serena Maione, Elena Sommariva, Milena Bellin;
Generation of human induced pluripotent stem cell line LUMCi027-A and its isogenic gene-corrected line from a patient affected by arrhythmogenic cardiomyopathy and carrying the c.2013delC PKP2 mutation.
Stem Cell Res. 46:101835-101835(2020)

Cross-references
Cell line databases/resources hPSCreg; LUMCi027-A-1
Biological sample resources BioSamples; SAMEA8073006
Encyclopedic resources Wikidata; Q98127087
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8