Cellosaurus cell line ISCRMi001-A (CVCL

Cross-references
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; 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
Publications	PubMed=36481506; DOI=10.1016/j.scr.2022.102987; PMCID=PMC9900081 Alexander Loiben, Clayton E. Friedman, Wei-Ming Chien, April S. Stempien-Otero, Shin Lin, Kai-Chun Yang; 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 creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3