Cellosaurus cell line EURACi006-A-1 (CVCL

Cross-references
Cell line name	EURACi006-A-1
Synonyms	iso M003#9.3-C12; LUMCi047-A-1
Accession	CVCL_A0LU
Resource Identification Initiative	To cite this cell line use: EURACi006-A-1 (RRID:CVCL_A0LU)
Comments	From: EURAC Research Institute for Biomedicine; Bolzano; Italy. 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.Gly548Valfs*15 (c.1643delG); ClinVar=VCV000202035; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=34134068).
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_A0LT (EURACi006-A)
Sex of cell	Male
Age at sampling	44Y
Category	Induced pluripotent stem cell
Publications	PubMed=34134068; DOI=10.1016/j.scr.2021.102426 Meraviglia V., Ganesh S., Arendzen C.H., Freund C.M.A.H., Sommariva E., Rossini A., Bellin M. Generation of human induced pluripotent stem cell line EURACi006-A and its isogenic gene-corrected line EURACi006-A-1 from an arrhythmogenic cardiomyopathy patient carrying the c.1643delG PKP2 mutation. Stem Cell Res. 54:102426-102426(2021)
Cell line databases/resources	hPSCreg; EURACi006-A-1
Encyclopedic resources	Wikidata; Q108820201
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6