Cellosaurus logo
expasy logo

Cellosaurus IBBISTi007-B (CVCL_D6LZ)

[Text version]
Cell line name IBBISTi007-B
Synonyms F26 clone 2; 2F26
Accession CVCL_D6LZ
Resource Identification Initiative To cite this cell line use: IBBISTi007-B (RRID:CVCL_D6LZ)
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.Trp577Ter (c.1731G>A); ClinVar=VCV000180943; 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_D6LY ! IBBISTi007-A
Sex of cell Male
Age at sampling 48Y
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; IBBISTi007-B
Biological sample resources BioSamples; SAMEA115160098
Encyclopedic resources Wikidata; Q127382078
Entry history
Entry creation02-May-2024
Last entry update10-Sep-2024
Version number2