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Cellosaurus SCVIi050-A (CVCL_B7SJ)

[Text version]
Cell line name SCVIi050-A
Synonyms SCVI-2486; SCVI 2486; SCVI2486
Accession CVCL_B7SJ
Resource Identification Initiative To cite this cell line use: SCVIi050-A (RRID:CVCL_B7SJ)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9080; PLN; Simple; p.Arg14del (c.37_39AGA[1]) (c.40_42delAGA) (R14del); ClinVar=VCV000044580; Zygosity=Heterozygous (PubMed=35853412).
Disease Dilated cardiomyopathy-1P (NCIt: C173625)
Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=35853412; DOI=10.1016/j.scr.2022.102855; PMCID=PMC9681708
Arianne Caudal, Gema Mondejar-Parreno, Carlos D. Vera, Damon R. Williams, Sushma P. Shenoy, David Liang, Joseph C. Wu;
Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients.
Stem Cell Res. 63:102855-102855(2022)

Cross-references
Cell line databases/resources hPSCreg; SCVIi050-A
Biological sample resources BioSamples; SAMEA14322390
Encyclopedic resources Wikidata; Q112930367
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5