IPSCs, Models, Biorepository and Publications
The STXBP1 Foundation is dedicated to supporting and educating researchers, clinicians, and educators about STXBP1 disorders. Here you will find research resources, summary information, references, and other information to aid in your STXBP1-related research.
IPSC Cell Lines and Animal Models
Select IPSC cell lines and animal models are listed below and updated regularly. The STXBP1 Foundation collects information on a range of resources to help our investigator community accelerate their research.
Biorepository
The STXBP1 Foundation has partnered with COMBINEDBrain to establish a biorepository. Access the Biorepository here. For the Sample Catalog click on “COMBINEDBrain Full Sample Catalog” and scroll down to view available STXBP1 patient and control samples. To request any samples, click on Sample Request Form in the box on the lower right.
CRO for In Vivo Studies
InnoSer is a full service CRO and breeding facility located in Belgium. Among the research models they offer is the floxed null Stxbp1 mouse maintained on a pure C57BL/6J genetic background. This model demonstrates epileptic-like activity and muscle twitches as measured by EEG and EMG and robust cognitive impairment and behavioral disturbances, which have been demonstrated to respond to antiseizure medications.
On-site breeding and biotechnical expertise allow efficacy testing of both small molecule and precision-targeted interventions as early as post-natal day 1.
Knowledge Base
The STXBP1 Foundation has collected publications, webinars, and reference pages to help in educating the public and researchers.