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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 October 1, 2021, the TSC Biosample Repository has received:

  • 363 buccal cell samples for DNA isolation
  • 562 blood samples from which plasma and white blood cells have been isolated
  • 154 tissue samples:
    • 57 brain including SEGA tumors (frozen, fixed)
    • 31 kidney including angiomyolipoma (frozen, fixed)
    • 11 skin including 1 foreskin
    • 11 soft tissue including tumor
    • 7 sinus tissues (formalin-fixed paraffin slides only)
    • 4 newborn screening blood spot punches
    • 5 bone tissues
    • 4 heart tissues
    • 3 tonsil tissues
    • 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)
    • 2 appendix (one with glass H&E slides only)
    • 1 adipose tissue
    • 1 cartilage tissue
    • 1 eye
    • 1 muscle tissue
    • 1 placenta tissue
    • 1 tooth
    • 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)
  • 455 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

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, University of Maryland Brain and Tissue Bank)
Peter Crino, MD, PhD (University of Maryland Medical Center)
Petrus de Vries, PhD, MBChB, MRCPsych (University of Capetown)
Laura Farach, MD (University of Texas Health Science Center, Houston)
Nishant Gupta, MD (University of Cincinnati)
Rebecca Ihrie, PhD (Vanderbilt University)
Shafali Jeste, MD (Children’s Hospital Los Angeles)
Scott Jewell, PhD (ex officio, Van Andel Institute)
Elahna Paul, MD, PhD (Massachusetts General Hospital/Harvard)
Gabrielle Rushing, PhD (TSC Alliance)
Sean Shillinger (TSC Community)
Steve Sparagana, MD (Texas Scottish Rite Hospital for Children, Dallas)
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.