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Researchers

Biosample Repository

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
  • Plasma
  • 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 TSC Alliance. Download the HEK Cell Line Request Form. Replacement cell lines have a flat rate cost of $200 to cover shipping and staff time.

Samples Currently Available

As of June 1, 2021, the TSC Biosample Repository has received:

  • 359 buccal cell samples for DNA isolation
  • 494 blood samples from which plasma and white blood cells have been isolated
  • 42 tissue samples:
    • 9 brain (3 with matched formalin-fixed paraffin-embedded sample, 4 with only formalin-fixed paraffin slides)
    • 8 soft tissue (5 with matched FFPE sample, one with formalin-fixed paraffin slides only)
    • 7 sinus tissues (formalin-fixed paraffin slides only)
    • 4 kidney (2 with matched FFPE sample)
    • 2 liver (1 with matched FFPE sample, 1 glass H&E slides only)
    • 2 lung (1 with formalin-fixed paraffin slides only, 1 with glass H&E slides only)
    • 1 heart
    • 1 eye
    • 1 tooth
    • 1 sinus (formalin-fixed paraffin slides only)
    • 1 appendix (glass H&E slides only)
    • 1 head/neck sample (glass H&E slides only)
    • 1 bladder (glass H&E slides only)
    • 1 colon (glass H&E slides only)
    • 1 small bowel (glass H&E slides only)
    • 1 stomach (glass H&E slides only)
    • 1 testicle (glass H&E slides only)
  • 410 blood samples and 389 DNA samples from TSC Clinical Research Consortium projects, some of which may be available via application to the projects’ Biosample Use Committee
  • 83 tissue samples from the Maryland Brain and Tissue Bank:
      • Frozen
        • 1 adenoid (matched fixed tissue available)
        • 1 appendix
        • 20 brain (2 specify presence of cortical tuber, 8 specify SEGA tumor, 4 specify brain tumor mass); some with matched fixed tissue available
        • 1 cardiac mass
        • 1 facial angioma (scalp nevus)
        • 2 sets of fibroblasts (one from cheek facial angiofibroma, one from kidney angiomyolipoma)
        • 11 kidney (6 specify angiomyolipoma, 2 specify mixed tumor and normal tissue, one sample includes adrenal gland); some with matched fixed tissue available
        • 2 masses containing bone, muscle, and fat (from same donor; matched fixed tissue available)
        • 1 nasal cartilage
        • 1 placenta
        • 2 soft tissue tumors (chest, back from same donor)
      • Fixed
        • 2 adenoids, one including tonsil tissue (one with matched frozen tissue available)
        • 23 brain (3 specify presence of cortical tubers, 11 specify SEGA tumor, 2 specify brain tumor); some with matched frozen tissue available
        • 2 cardiac tumor
        • 1 fibroepithelial polyp
        • 1 fibrokeratoma
        • 8 kidney (5 specify kidney tumor including one renal cell carcinoma, one includes adrenal gland tissue); some with matched frozen tissue available
        • 2 mass consisting of bone, muscle, and fat (from same donor; matched frozen tissue available)
        • 1 skin

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

Please download the Application for Biosample Access and follow the instructions on pages 1-2. Prior to applying, we encourage you to discuss your project’s goals and biosample needs with Gabrielle Rushing, PhD.

All biosample requests will be reviewed by the Natural History Database and Biosample Repository Steering Committee:

Thomas Blanchard, PhD (Director, UMB Brain and Tissue Bank)
Peter Crino, MD, PhD (University of Maryland)
Petrus de Vries, PhD, MBChB, MRCPsych (University of Capetown)
Laura Farach, MD (University of Texas Health Science Center)
Nishant Gupta, MD (University of Cincinnati)
Rebecca Ihrie, PhD (Vanderbilt University)
Shafali Jeste, MD (UCLA)
Scott Jewell, PhD (ex oficio, Van Andel Institute)
Elahna Paul, MD, PhD (Mass General/Harvard)
Gabrielle Rushing, PhD (TSC Alliance)
Sean Shillinger (TSC Community)
Steve Sparagana, MD (Texas Scottish Rite)
Tara Zimmerman, JD (TSC Community)

Partnering Opportunities

The TSC 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.

Publications Using TSC Biosamples

  • Hsieh L, Wen J, Nguyen L, Zhang L, Getz S, Torres-Reveron J, Wang Y, Spencer D, and Bordey A. Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice. Sci Transl Med.
    2020 Nov 18;12(570):eabc1492. doi: 10.1126/scitranslmed.abc1492. Read the Article
    • The authors found a link between the expression of a channel protein called HCN4 (hyperpolarization-activated cyclic-gated potassium channel isoform 4) and seizure activity when present in neurons in mouse brains. They found that elevated mTOR activity led to HCN4 expression in mice and found HCN4 expression in brain tissues resected from patients with TSC.

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.

Acknowledgements

The TSC Biosample Repository is governed and wholly funded by the TSC 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.