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Cellosaurus SCVIi031-A (CVCL_B7DY)

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Cell line name SCVIi031-A
Accession CVCL_B7DY
Resource Identification Initiative To cite this cell line use: SCVIi031-A (RRID:CVCL_B7DY)
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 Male
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

PubMed=35700631; DOI=10.1016/j.scr.2022.102834; PMCID=PMC9476586
Carlos D. Vera, Amit Manhas, Sushma P. Shenoy, Matthew T. Wheeler, Karim Sallam, Joseph C. Wu;
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; SCVIi031-A
Biological sample resources BioSamples; SAMEA13252408
Encyclopedic resources Wikidata; Q112930357
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5