Resources – for professionals
At Cure CLCN4 we are working to provide the scientific community with the necessary tools to further research on CLCN4-related neurodevelopmental disorder. Below is a list of resources including upcoming research tools, informational resources and recordings of past scientific conferences.
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Research tools
Rat models (ORDER NOW!)
Two Clcn4-rat models produced by PHENOMIN-ICS and funded by Cure CLCN4, are now available for research on the EMMA repository of InfrafrontierEU. Click here to order now!
Available rat models:
- Clcn4 knockout.
- Clcn4 A549V point mutation (equivalent to human A555V PM).
Patient-derived iPSCs
We are very grateful to the Simons Searchlight foundation for the generation of induced pluripotent stem cells (iPSCs) from blood samples provided by CLCN4-affected families who have registered in the Simons Searchlight registry. A list of the upcoming cell lines will be available soon here.
Clinical resources
GeneReviews for CLCN4-Related Neurodevelopmental Disorder
This GeneReview publication contains up to date information about CLCN4-related neurodevelopmental disorder including diagnosis, clinical characteristics, management and resources.
Past conferences
Inaugural CureCLCN4 Scientific Conference
Our first scientific conference took place last May 2022, hosting a range of fantastic speakers and informative talks on CLCN4-related condition, rare disease, ion channels, neuroscience and drug discovery. Recordings of the conference are available here.
