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Cellosaurus LUMCi027-A-1 (CVCL_ZA19)

[Text version]

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.
Characteristics: The heterozygous PKP2 p.Lys672Argfs*12 (c.2013delC) (ClinVar=VCV000202022) mutation of the donor has been corrected by CRISPR/Cas9 (PubMed=32485643).
Derived from sampling site: Skin.
Disease Arrhythmogenic right ventricular dysplasia (NCIt: C84571)
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
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
Meraviglia V., Arendzen C.H., Tok M., Freund C., 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-1
Entry history
Entry creation02-Jul-2020
Last entry update02-Jul-2020
Version number1