Biosamples
TSC Biospecimens
The TSC Alliance Biosample Repository has the following samples available for use from individuals affected by TSC. All biosample requests will be reviewed by the Natural History Database and Biosample Repository Steering Committee.
Cord Blood Samples
Control samples
NHLBI Umbilical Cord Blood Unit Collection (CBB)
Cord Blood Transplantation Study (COBLT)
- Each study page has more information, including study documentation, data dictionaries, and general specimen availability tables.
- CBB was a banking protocol that has cord blood units (CBUs) and cord blood aliquots available. CBUs are red cell depleted, volume reduced and cryopreserved with DMSO/Dextran in 25 ml bags. The cord blood aliquots may be suitable for studies that do not require viable cells. Please note that the associated patient data is very limited (see the data dictionary).
- COBLT was a transplant study that has more associated data and a limited number of cord blood aliquots available, but not CBUs.
- Please know that any funded investigators would be expected to request specimens directly from BioLINCC
Control and Potential TSC samples
HRSA Cord Blood Units for Research
- Limited stock of healthy CBUs available as frozen units (stored in LN2, erythroreduced, available as whole units)
Potential Dried Blood Spot Samples from Texas and New York
- The TSC Alliance has requested historical dried blood spots from individuals born with TSC in certain states. We will update applicants once we have additional information.
Tools
Immunoprecipitation of TSC/mTOR proteins
ThermoFisher IP-tMS platform for TSC/mTOR protein quantification
Metabolomics
Resources on databases:
Metabolomics Society: Databases
Human Metabolome Database (hmdb.ca)
Relevant Publications
Study on predicting autism risk: Predicting Autism Risk May Begin With a Drop of Blood (ucsd.edu)