The TSC Biosample Repository houses human biological materials such as blood, DNA, and tissues linked to detailed clinical data in the TSC Natural History Database. High-quality biosamples and their associated clinical data will enable researchers to discover biomarkers, establish human cell lines or tissue arrays for drug testing, and search for clues to understand why TSC is so different from person to person.
Types of samples available include:
- DNA isolated from white blood cells and buccal cells
- White blood cell pellets
- Remnant tissue from surgeries (frozen or fixed, paraffin-embedded), including brain, kidney, and liver
The TSC Biosample Repository also provides researchers in the Americas access to the TSC1- and TSC2-knockout HEK293T cell lines from the Nellist laboratory at Erasmus MC:
- Cell line 1C2 (TSC1-/-)
- Cell line 3H9 (TSC2-/-)
- Cell line 3H9-1B1 (TSC1-/-/TSC2-/-)
- HEK 293T (parental cell line)
The Van Andel Research Institute in Grand Rapids, MI processes, stores, and delivers TSC Biosample Repository samples on behalf of the TS Alliance. Download the HEK Cell Line Request Form.
Samples Currently Available
As of August 1, 2020, the TSC Biosample Repository contained:
- 356 buccal cell samples for DNA isolation
- 331 blood samples from which plasma and white blood cells have been isolated
- 15 tissue samples
- 4 brain (2 with matched formalin-fixed paraffin-embedded sample)
- 3 kidney (2 with matched FFPE sample)
- 5 soft tissue (3 with matched FFPE sample)
- 1 liver (1 with matched FFPE sample)
- 1 heart
- 1 eye
- 334 blood samples from TSC Clinical Research Consortium projects, some of which may be available via application to the projects’ Biosample Use Committee
Because biosamples are linked to data in the Natural History Database, applicants may request subsets of biosamples based on clinical phenotypes, age, sex, etc. Additional data from the Natural History Database relevant to the project may be requested for each sample, as well.
How to Request Samples
All biosample requests will be reviewed by the Biosample Use Committee:
- Peter Crino, MD, PhD (University of Maryland)
- David J. Kwiatkowski, MD, PhD (Brigham and Women’s Hospital)
- Jeff Mackeigan, PhD (Michigan State University)
- Debora Moritz (TSC community member)
- Steve Roach, MD (University of Texas at Austin)
- Steven L. Roberds, PhD (Tuberous Sclerosis Alliance)
- Dana Valley (Van Andel Research Institute)
The TS Alliance is eager to partner with sponsors of clinical trials or clinical research studies to collect biosamples centrally at the TSC Biosample Repository. Such biosamples will remain under the control of the study’s biosample use committee until the conclusion of the project, at which time the samples will become part of the openly available TSC Biosample Repository. This provides a win-win opportunity to ensure the long-term availability of valuable samples. This process is being used with the Developmental Synaptopathies Consortium and the PREVeNT clinical trial.
Information for Individuals with TSC and Their Families
If you are an individual with TSC or a family member of someone with TSC, please see here for information about donating samples to the TSC Biosample Repository.
The TSC Biosample Repository is governed and wholly funded by the TS Alliance thanks to generous support from Lorne Waxlax, Bill Watts, the Cowlin Family Fund, the Engles Collaborative Research Fund, Jim and Andrea Maginn, and many additional donors through the Unlock the Cure campaign.