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

  • 1853
    cell culture samples
    • 1936
      patients
    • 555
      diseases
    • 305
      genes
    • 762
      mutations
    • 42
      CNV
    • 1737
      primary fibroblast cultures
    • 11
      primary myoblast cultures
    • 92
      urinary cell cultures
    • 29
      iPSC
    • 63
      intestinal organoids
    • 6
      pulmonary organoids
    • 2
      hepatocyte progenitor cells
  • 26124
    blood samples
    • 10558
      patients
    • 2152
      diseases
  • 6625
    genomic DNA samples
    • 3719
      patients
    • 443
      diseases
    • 395
      genes
    • 1657
      mutations
  • 104
    clinical and molecular data
    • 82
      3D face mask of the skull
    • 5
      genomic data
    • 29
      metabolic research data
    • 1551
      HPO term