The TSC Alliance signed an agreement with Erasmus MC to include the TSC1- and TSC2-knockout HEK293T cell lines from the Nellist laboratory in the TSC Biosample Repository. The TSC Alliance can distribute these cell lines to researchers based in the United States.

The available cell lines include:

  • Cell line 1C2 (TSC1-/-)
  • Cell line 3H9 (TSC2-/-)
  • Cell line 3H9-1B1 (TSC1-/-/TSC2-/-)
  • HEK 293T (parental cell line)

Additionally, the Repository now contains several samples of remnant tissues from surgeries, including brain, kidney, and liver. These samples are available frozen or formalin-fixed and paraffin-embedded.

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.

In addition to HEK cell lines and remnant tissue samples, the TSC Biosample Repository can supply DNA isolated from white blood cells and buccal cells, white blood cell pellets, and plasma. The Van Andel Research Institute in Grand Rapids, MI processes, stores, and delivers TSC Biosample Repository samples on behalf of the TSC Alliance.


Participant Characteristics as of December 2017 (n=245)

Please see this report for more information about the representativeness of the participants in the Biosample Repository.

How to Request Samples

Please contact Jo Anne Nakagawa with inquiries about using the samples for research. All biosample requests will be reviewed by the Biosample Use Committee, a group of external experts on TSC.

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.