ID   UGENTi002-A-1
AC   CVCL_D0MN
DR   BioSamples; SAMEA113958745
DR   hPSCreg; UGENTi002-A-1
DR   Wikidata; Q123033697
RX   PubMed=39217685;
CC   From: Ghent University; Ghent; Belgium.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3052; DSP; Simple_corrected; p.Gln273Ter (c.817C>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=39217685).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
CC   Cell type: Epithelial cell of kidney; CL=CL_0002518.
DI   NCIt; C84571; Arrhythmogenic right ventricular dysplasia
DI   ORDO; Orphanet_293910; Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D0MM ! UGENTi002-A
SX   Male
AG   20Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 10-09-24; Version: 3
//
RX   PubMed=39217685; DOI=10.1016/j.scr.2024.103537;
RA   Leger L., Aalders J., Heymans N., Van Acker-Verberckt K., De Bleeckere L.,
RA   Coucke P., Menten B., Bauce B., Vitiello L., Rampazzo A., Calore M.,
RA   van Hengel J.;
RT   "Generation of a human induced pluripotent stem cell line UGENTi002-A
RT   from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T
RT   DSP heterozygous variant and isogenic control using CRISPR/Cas9
RT   editing.";
RL   Stem Cell Res. 81:103537-103537(2024).
//