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Cellosaurus IBBISTi008-A (CVCL_D6M0)

[Text version]
Cell line name IBBISTi008-A
Synonyms F82 clone 8; 8F82; 128_8
Accession CVCL_D6M0
Resource Identification Initiative To cite this cell line use: IBBISTi008-A (RRID:CVCL_D6M0)
Comments From: Simao Jose Teixeira da Rocha; Porto Salvo; Portugal.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7551; MYBPC3; Simple; p.Trp890Ter (c.2670G>A); ClinVar=VCV000042650; Zygosity=Heterozygous (PubMed=38417376).
Disease Familial hypertrophic cardiomyopathy type 4 (NCIt: C133725)
Rare familial disorder with hypertrophic cardiomyopathy (ORDO: Orphanet_99739)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6M1 ! IBBISTi008-B
Sex of cell Female
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=38417376; DOI=10.1016/j.scr.2024.103362
Ribeiro M., Jager J., Furtado M., Carvalho T., Cabral J.M.S., Brito D., do Carmo-Fonseca M., Martins S., da Rocha S.J.T.
Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations.
Stem Cell Res. 76:103362-103362(2024)

Cross-references
Cell line databases/resources hPSCreg; IBBISTi008-A
Biological sample resources BioSamples; SAMEA115165681
Encyclopedic resources Wikidata; Q127382079
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2