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Cellosaurus IBBISTi006-A (CVCL_D1G3)

[Text version]
Cell line name IBBISTi006-A
Synonyms F93 clone 5; 5F93
Accession CVCL_D1G3
Resource Identification Initiative To cite this cell line use: IBBISTi006-A (RRID:CVCL_D1G3)
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.Arg495Gln (c.1484G>A); ClinVar=VCV000164113; Zygosity=Heterozygous (PubMed=38104429).
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_D1G4 ! IBBISTi006-B
Sex of cell Female
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=38104429; DOI=10.1016/j.scr.2023.103282
Ribeiro M., Martins S., Carvalho T., Furtado M., Cabral J.M.S., Brito D., do Carmo-Fonseca M., da Rocha S.J.T.
Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying the MYBPC3 missense c.1484G>A mutation.
Stem Cell Res. 74:103282-103282(2024)

Cross-references
Cell line databases/resources hPSCreg; IBBISTi006-A
Biological sample resources BioSamples; SAMEA114560785
Encyclopedic resources Wikidata; Q127382074
Entry history
Entry creation30-Jan-2024
Last entry update10-Sep-2024
Version number3