Although COVID-19 is delaying many aspects of academic research, the TSC Alliance can help you prepare to launch your research forward as soon as this public health crisis passes. We can review and approve your applications for biosample use in advance so samples may be shipped as soon as is permissible by your institution.
Are you looking for samples from TSC patients to use in your lab? The TSC Biosample Repository has a growing collection of samples tied to phenotypic data. In most cases, we can ship these samples at no charge to the investigator.
To date, we have shipped 842 samples for use in diverse projects, ranging from quantification of sphingolipids in plasma to investigating mitochondrial DNA heteroplasmy.
As of April 1, 2021, the TSC Biosample Repository has collected:
- 358 buccal cell samples for DNA isolation
- 456 blood samples from which plasma and white blood cells have been isolated
- 30 tissue samples
- 6 brain (3 with matched formalin-fixed paraffin-embedded sample,1 with only formalin-fixed paraffin slides)
- 7 soft tissue (5 with matched FFPE sample)
- 4 kidney (2 with matched FFPE sample)
- 2 liver (1 with matched FFPE sample,1 glass H&E slides only)
- 1 heart
- 1 eye
- 1 tooth
- 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 lung (glass H&E slides only)
- 1 testicle (glass H&E slides only)
- 395 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)
- 22 brain (3 specify presence of cortical tubers, 10 specify SEGA tumor, 2 specify brain tumor); some with matched frozen tissue available
- 2 cardiac tumor
- 1 fibroepithelial polyp
- 1 fibrokeratoma
- 9 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
- Frozen
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 Zoë Fuchs prior to starting the application.