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Cellosaurus ISMMSi045-A (CVCL_C0G0)

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Cell line name ISMMSi045-A
Synonyms PLN-R14del-2BC4; PLNR14del-2BC4
Accession CVCL_C0G0
Resource Identification Initiative To cite this cell line use: ISMMSi045-A (RRID:CVCL_C0G0)
Comments From: Icahn School of Medicine at Mount Sinai; New York; 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=35247838).
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 55Y
Category Induced pluripotent stem cell
Publications

PubMed=35247838; DOI=10.1016/j.scr.2022.102737
Nishka Mittal, Jaydev Dave, Magdalena Harakalova, J. Peter van Tintelen, Folkert W. Asselbergs, Pieter A.F.M. Doevendans, Kevin D. Costa, Irene C. Turnbull, Francesca Stillitano;
Generation of human induced pluripotent stem cell (iPSC) lines derived from five patients carrying the pathogenic phospholamban-R14del (PLN-R14del) variant and three non-carrier family members.
Stem Cell Res. 60:102737-102737(2022)

Cross-references
Cell line databases/resources hPSCreg; ISMMSi045-A
Biological sample resources BioSamples; SAMEA11979100
Encyclopedic resources Wikidata; Q112929881
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5