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Cellosaurus ISMMSi054-A (CVCL_D0GI)

[Text version]
Cell line name ISMMSi054-A
Synonyms aPLN-R14del-3AC3
Accession CVCL_D0GI
Resource Identification Initiative To cite this cell line use: ISMMSi054-A (RRID:CVCL_D0GI)
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 Female
Age at sampling 27Y
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; ISMMSi054-A
Biological sample resources BioSamples; SAMEA113606545
Encyclopedic resources Wikidata; Q123032752
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2