ID   UNIPDi006-A
AC   CVCL_A5CD
SY   DSG2_Q558*
DR   BioSamples; SAMEA117634706
DR   hPSCreg; UNIPDi006-A
DR   Wikidata; Q107117347
RX   PubMed=40106965;
CC   From: University of Padova; Padova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3049; DSG2; Simple; p.Gln558Ter (c.1672C>T); ClinVar=VCV001075931; Zygosity=Heterozygous (PubMed=40106965).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C177248; Familial arrhythmogenic right ventricular dysplasia 10
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   35Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 10-04-25; Version: 4
//
RX   PubMed=40106965; DOI=10.1016/j.scr.2025.103695;
RA   Sacchetto C., Rabino M., Paulis M., Ferron S., Bauce B., Vitiello L.,
RA   Rampazzo A., de Windt L.J., Di Pasquale E., Calore M.;
RT   "Generation of the human iPSC line UNIPDi006-A from a patient with
RT   arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T
RT   pathogenic variant.";
RL   Stem Cell Res. 85:103695-103695(2025).
//