Cellosaurus cell line UNIPDi006-A (CVCL

Cross-references
Cell line name	UNIPDi006-A
Synonyms	DSG2_Q558*
Accession	CVCL_A5CD
Resource Identification Initiative	To cite this cell line use: UNIPDi006-A (RRID:CVCL_A5CD)
Comments	From: University of Padova; Padova; Italy. Population: Caucasian. Derived from site: In situ; Urine; UBERON=UBERON_0001088. Cell type: Epithelial cell of kidney; CL=CL_0002518.
Sequence variations	Mutation; HGNC; HGNC:3049; DSG2; Simple; p.Gln558Ter (c.1672C>T); ClinVar=VCV001075931; Zygosity=Heterozygous (PubMed=40106965).
Disease	Familial arrhythmogenic right ventricular dysplasia 10 (NCIt: C177248) Familial isolated arrhythmogenic ventricular dysplasia, right dominant form (ORDO: Orphanet_293910)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	35Y
Category	Induced pluripotent stem cell
Publications	PubMed=40106965; DOI=10.1016/j.scr.2025.103695 Sacchetto C., Rabino M., Paulis M., Ferron S., Bauce B., Vitiello L., Rampazzo A., de Windt L.J., Di Pasquale E., Calore M. Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant. Stem Cell Res. 85:103695-103695(2025)
Cell line databases/resources	hPSCreg; UNIPDi006-A
Biological sample resources	BioSamples; SAMEA117634706
Encyclopedic resources	Wikidata; Q107117347
Entry history
Entry creation	20-May-2021
Last entry update	10-Apr-2025
Version number	4