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Cellosaurus ISMMSi057-A (CVCL_D0GK)

[Text version]
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; 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

PubMed=37748331; DOI=10.1016/j.scr.2023.103208
Balducci V., Scardigli F., Harakalova M., van Tintelen J.P., Doevendans P.A.F.M., Costa K.D., Turnbull I.C., Sluijter J.P.G., Stillitano F.
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)

Cell line databases/resources hPSCreg; ISMMSi057-A
Biological sample resources BioSamples; SAMEA113606547
Encyclopedic resources Wikidata; Q123032754
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2