Are you looking for samples from TSC patients to use in your lab? The TSC Biosample Repository has a growing collection of samples that are tied to phenotypic data. In most cases, we can ship these samples at no charge to the investigator.

By the end of March 2019, we have shipped 678 samples for use in diverse projects, ranging from quantification of sphingolipids in plasma to investigating mitochondrial DNA heteroplasmy.

As of March 31, 2019, the TSC Biosample Repository has collected:

  • 342 buccal cell samples for DNA isolation
  • 217 blood samples from which plasma and white blood cells have been isolated
  • 10 tissue samples, including 9 frozen (7 also have a matched fixed, paraffin-embedded sample) and 1 tooth, fixed
    • 3 kidney
    • 2 brain
    • 3 soft tissue
    • 1 liver
    • 1 tooth
  • 254 blood samples from TSC Clinical Research Consortium projects, some of which may be available via application to the projects’ Biosample Use Committees

Because biosamples are linked to data in the Natural History Database, applicants may request subsets of biosamples based on clinical phenotypes, age, sex, etc., to compare, for example, samples from individuals with TSC who developed angiomyolipomas at different ages or not at all. Additional data from the Natural History Database relevant to the project may be requested for each sample, as well.

In addition to patient samples, we also have a license to distribute the TSC1- and TSC2-knockout HEK293T cell lines from the Nellist laboratory at Erasmus MC to researchers in the Americas.

If you would like to request biosamples, please follow the instructions on our Biosample Repository page. We encourage you to discuss your project’s goals and biosample needs with Jo Anne Nakagawa prior to starting the application.