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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
Caudal A., Mondejar-Parreno G., Vera C.D., Williams D.R., Shenoy S.P., Liang D., Wu J.C.
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