REQUEST BIOSAMPLES
Looking for patient biospecimens or KCNT1 cell lines or animal models? We can help you.
At the KCNT1 Epilepsy Foundation, we maintain a biorepository of patient-derived biospecimens (blood, PBMCs, plasma, fibroblasts) and derived cell models. We have partnered with COMBINEDBrain and the Van Andel Institute to collect and store biosamples from patients with KCNT1 variants. Because these are rare and precious materials, we’ve implemented a robust governance framework to ensure they are used responsibly, ethically, and effectively.
Complete the form below with your request.
If you are looking for mouse or other animal models, we can put you in touch with those who have them.
Also, brain tissue is available through the NIH Neurobiobank. See link below.
Check back often, as we will be adding more sample types and variants throughout the year. Email Ali@KCNT1Epilepsy.org with any questions.
KCNTI Mouse Models
| Mouse variant | Human variant equivalent |
| L437F | L456F |
| R455H | R474H |
| Y777H | Y796H |
| R409Q | R428Q |
| P905L | P924L |
| Y777H | Y796H |
| R409Q | R428Q |
| Knockout | |
| Conditional KO |
Cell Lines
| Variant | Cell line type |
| c.1283G>A; p.Arg428Gln | fibroblast |
| c.1661G>A; p.Gly554Glu | fibroblast |
| c.2849G>A; p.Arg950Gln | fibroblast |
| c.1421 G>A; p.Arg474His | IPSC, fibroblast |
| c.862G>A; p.Gly288Ser | IPSC |
| c.2849G>A; p.Arg950Gln | IPSC |
| c.2800 G>A; c.Ala934Thr | IPSC |
| Pro924Leu | Engineered IPSC |
KCNTI Patient Biospecimens
| Variant | Blood sample Type | Location |
| c.2797 C>G; p.Arg993Gly | PBMCs, plasma, and white blood cell pellets | Van Andel Institute |
| c.1421 G>A; p.Arg474His | PBMCs, plasma, and white blood cell pellets | Van Andel Institute |
Requests may be submitted either directly through the KCNT1 Foundation or through COMBINEDBrain. All requests, regardless of entry point, undergo KCNT1 Foundation governance review including our fit-for-purpose classification, readiness screening, and SAB oversight and required agreements (MTA/SRA).
KCNT1 Biobank Request & Catalogue Contribution Form
Brain Tissue Requests
The University of Maryland Brain and Tissue bank has KCNT1 brain tissue. All requests for brain tissue must be submitted to the NIH NeuroBioBank.
The NIH NeuroBioBank was formed and funded by NIMH, NICHD and NINDS to provide researchers access via one website to human tissue collected, processed and stored by the following Brain and Tissue Banks:
- University of Maryland Brain and Tissue Bank
- University of Miami Brain Endowment Bank
- Harvard Tissue Resource Center
- The Human Brain and Spinal Fluid Resource Center
- Mt. Sinai Brain Bank
- Brain Tissue Donation Program at the University of Pittsburgh
Click on the “Researchers” tab at the NIH NeuroBioBank website. Information is provided for tissue availability from hundreds of disorders along with demographics and RIN, a measure of RNA quality.
For Families Consideration a Gift
The University of Maryland Brain and Tissue Bank gratefully accepts brain and other tissue donations from individuals with neurologic, development, movement and psychiatric disorders as well as from individuals with none of these underlying diseases to serve as unaffected controls.
Preregistration is not required but simplifies and speeds the process of tissue recovery when death occurs.
Request a registration packet to become a donor by emailing btbdonors@som.umaryland.edu
Or by calling 1-800-847-1539
**If death is imminent or has just occurred, please call 1-800-847-1539 or (410) 706-1755, even if not registered. A staff member can be reached 24 hours a day in cases of emergencies.
