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Cellosaurus ISMMSi048-A (CVCL_C0G3)

[Text version]
Cell line name ISMMSi048-A
Synonyms PLN-R14del-5BC4
Accession CVCL_C0G3
Resource Identification Initiative To cite this cell line use: ISMMSi048-A (RRID:CVCL_C0G3)
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 64Y
Category Induced pluripotent stem cell
Publications

PubMed=35247838; DOI=10.1016/j.scr.2022.102737
Mittal N., Dave J., Harakalova M., van Tintelen J.P., Asselbergs F.W., Doevendans P.A.F.M., Costa K.D., Turnbull I.C., Stillitano F.
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; ISMMSi048-A
Biological sample resources BioSamples; SAMEA11979880
Encyclopedic resources Wikidata; Q112929885
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5