Russian collection of biological samples of hereditary diseases

This is a unique world-class bioresource collection of samples from patients with genetic diseases, created to study their pathogenesis, develop diagnostic and treatment methods, including those based on genetic editing technologies

  • Collection of human biological materials

    Organized and supported by the Research Centre for Medical Genetics and the Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences

  • Purpose of the collection

    Preservation, replenishment, study and maintenance of collections of unique biological samples obtained from residents of various regions of Russia and the Near Abroad

  • Samples and cell cultures

    Use for diagnostics, studying the molecular pathogenesis of diseases, developing new approaches to treating genetic diseases

Statistics

  • 4305
    cell culture samples
    • 4149
      patients
    • 648
      diseases
    • 360
      genes
    • 946
      mutations
    • 59
      CNV
    • 4115
      primary fibroblast cultures
    • 11
      primary myoblast cultures
    • 92
      urinary cell cultures
    • 29
      iPSC
    • 61
      intestinal organoid
    • 10
      pulmonary organoids
    • 7
      hepatocyte progenitor cells
    • 2189
      cell lines with genomic data
  • 82029
    blood samples
    • 40092
      patients
    • 973
      diseases
    • 15477
      blood samples with full genomic data
  • 6625
    genomic DNA samples
    • 3719
      patients
    • 443
      diseases
    • 3174
      gDNA samples with full genomic data