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Cellosaurus LUMCi027-A (CVCL_ZA18)

[Text version]
Cell line name LUMCi027-A
Synonyms LUMC0153iPKP03
Accession CVCL_ZA18
Resource Identification Initiative To cite this cell line use: LUMCi027-A (RRID:CVCL_ZA18)
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; 9024; PKP2; Simple; p.Lys672Argfs*12 (c.2013delC); ClinVar=VCV000202022; Zygosity=Heterozygous (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 Children:
CVCL_ZA19 (LUMCi027-A-1)
Sex of cell Female
Age at sampling 41Y
Category Induced pluripotent stem cell
Publications

PubMed=32485643; DOI=10.1016/j.scr.2020.101835
Meraviglia V., Arendzen C.H., Tok M., Freund C.M.A.H., Maione A.S., Sommariva E., Bellin M.
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
Biological sample resources BioSamples; SAMEA6724119
Encyclopedic resources Wikidata; Q98127085
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number7