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Cellosaurus SCVIi030-A (CVCL_B7DZ)

[Text version]
Cell line name SCVIi030-A
Accession CVCL_B7DZ
Resource Identification Initiative To cite this cell line use: SCVIi030-A (RRID:CVCL_B7DZ)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
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=35700631).
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 Female
Age at sampling 54Y
Category Induced pluripotent stem cell
Publications

PubMed=35700631; DOI=10.1016/j.scr.2022.102834; PMCID=PMC9476586
Vera C.D., Manhas A., Shenoy S.P., Wheeler M.T., Sallam K., Wu J.C.
Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C.
Stem Cell Res. 63:102834-102834(2022)

Cross-references
Cell line databases/resources hPSCreg; SCVIi030-A
Biological sample resources BioSamples; SAMEA13252311
Encyclopedic resources Wikidata; Q112930356
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5