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Cellosaurus IBBISTi005-B (CVCL_D1G2)

[Text version]
Cell line name IBBISTi005-B
Synonyms F81 (940) clone 8; 8F81
Accession CVCL_D1G2
Resource Identification Initiative To cite this cell line use: IBBISTi005-B (RRID:CVCL_D1G2)
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_D1G1 ! IBBISTi005-A
Sex of cell Male
Age at sampling 54Y
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; IBBISTi005-B
Biological sample resources BioSamples; SAMEA114560167
Encyclopedic resources Wikidata; Q127382073
Entry history
Entry creation30-Jan-2024
Last entry update10-Sep-2024
Version number3