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Cellosaurus ISMMSi057-A (CVCL_D0GK)

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Cell line name ISMMSi057-A
Synonyms aPLN-R14del-5CC6
Accession CVCL_D0GK
Resource Identification Initiative To cite this cell line use: ISMMSi057-A (RRID:CVCL_D0GK)
Comments From: Icahn School of Medicine at Mount Sinai; New York; USA.
Population: Caucasian.
Donor information: At sampling donor was asymptomatic for cardiomyopathy.
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=37748331).
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 39Y
Category Induced pluripotent stem cell
Publications

PubMed=37748331; DOI=10.1016/j.scr.2023.103208
Valentina Balducci, Francesco Scardigli, Magdalena Harakalova, J. Peter van Tintelen, Pieter A.F.M. Doevendans, Kevin D. Costa, Irene C. Turnbull, Joost P.G. Sluijter, Francesca Stillitano;
Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative.
Stem Cell Res. 72:103208-103208(2023)

Cross-references
Cell line databases/resources hPSCreg; ISMMSi057-A
Biological sample resources BioSamples; SAMEA113606547
Encyclopedic resources Wikidata; Q123032754
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3