CACNA1A Foundation Biorepository

CACNA1A biological samples are currently being developed and will be available to qualified researchers to advance promising new studies that will support CACNA1A research and aid in drug development and drug discovery.

For more information, please email us at: science@cacna1a.org

 Knowledge is power!

The more that is known about genetic disease, the higher the chances that new medications and treatments can be found.

The CACNA1A Foundation has 13 completed patient-derived iPSC lines available for use.

  • p.R1667P

  • p.Q1674SfsX43 + Isogenic control

  • p.V1393M

  • p.D1634N

  • p.R1349Q (multiple lines)

  • p.R1346Q

  • p.A713T + Isogenic control

  • p.R1664Q (multiple lines)

  • L1345P

  • R1661H

  • S218L

  • K772*

    Anyone who is interested in obtaining these lines can reach out directly to COMBINEDBrain where they are stored. Please indicate the gene and variant you need.

We’ve currently invested over $50,000 in this initiative, which is a critical piece of our clinical trial readiness program.

Please contact science@cacna1a.org for more information