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Cellosaurus ISCRMi001-A (CVCL_C6Q1)

[Text version]
Cell line name ISCRMi001-A
Synonyms hiPSC DSP hetL463Serfs*22; DSP Leu462fs; 3-0062
Accession CVCL_C6Q1
Resource Identification Initiative To cite this cell line use: ISCRMi001-A (RRID:CVCL_C6Q1)
Comments From: University of Washington Institute for Stem Cell and Regenerative Medicine; Seattle; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 3052; DSP; Simple; p.Leu463Serfs*22 (c.1386delT); ClinVar=VCV000922148; Zygosity=Heterozygous (PubMed=36481506).
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)
Sex of cell Female
Age at sampling 47Y
Category Induced pluripotent stem cell

PubMed=36481506; DOI=10.1016/j.scr.2022.102987
Loiben A., Friedman C.E., Chien W.-M., Stempien-Otero A.S., Lin S., Yang K.-C.
Generation of human iPSC line from an arrhythmogenic cardiomyopathy patient with a DSP protein-truncating variant.
Stem Cell Res. 66:102987-102987(2023)

Cell line databases/resources hPSCreg; ISCRMi001-A
Biological sample resources BioSamples; SAMEA111405406
Encyclopedic resources Wikidata; Q117704554
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2