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Cellosaurus UGENTi002-A (CVCL_D0MM)

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Cell line name UGENTi002-A
Accession CVCL_D0MM
Resource Identification Initiative To cite this cell line use: UGENTi002-A (RRID:CVCL_D0MM)
Comments From: Ghent University; Ghent; Belgium.
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:3052; DSP; Simple; p.Gln273Ter (c.817C>T); Zygosity=Heterozygous (PubMed=39217685).
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 Children:
CVCL_D0MN (UGENTi002-A-1)
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

PubMed=39217685; DOI=10.1016/j.scr.2024.103537
Laurens Leger, Jeffrey Aalders, Nina Heymans, Kiara Van Acker-Verberckt, Lea De Bleeckere, Paul Coucke, Bjorn Menten, Barbara Bauce, Libero Vitiello, Alessandra Rampazzo, Martina Calore, Jolanda van Hengel;
Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing.
Stem Cell Res. 81:103537-103537(2024)

Cross-references
Cell line databases/resources hPSCreg; UGENTi002-A
Biological sample resources BioSamples; SAMEA113939453
Encyclopedic resources Wikidata; Q123033696
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4