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

  • 3087
    cell culture samples
    • 2988
      patients
    • 503
      diseases
    • 340
      genes
    • 864
      mutations
    • 57
      CNV
    • 2967
      primary fibroblast cultures
    • 11
      primary myoblast cultures
    • 92
      urinary cell cultures
    • 29
      iPSC
    • 63
      intestinal organoids
    • 10
      pulmonary organoids
    • 7
      hepatocyte progenitor cells
    • 2189
      cell lines with genomic data
  • 26124
    blood samples
    • 10558
      patients
    • 2152
      diseases
    • 3864
      blood samples with full genomic data
  • 6625
    genomic DNA samples
    • 3719
      patients
    • 443
      diseases
    • 395
      genes
    • 1657
      mutations
    • 3174
      gDNA samples with full genomic data
  • 104
    clinical and molecular data
    • 82
      3D face mask of the skull
    • 89
      metabolic research data