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From Worms, Mouse to Organoids: Modeling STXBP1 at Every Scale

At Rafa’s Moonshot, we’ve built a comprehensive suite of disease models to investigate STXBP1-related disorders from multiple biological angles. Our platform spans from C. elegans to cortical organoids and transgenic mice, providing an end-to-end translational bridge between basic research and therapeutic validation.

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Explore Our Models

Our models are open for collaboration. If you’re a researcher or biotech group working on STXBP1 or a related pathway, reach out. Let’s work together.

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IPSCs-Derived Neurons

A comprehensive library of patient-derived iPSCs, isogenic corrected controls, and engineered isogenic mutant lines to generate neurons for analysis of STXBP1 variants.

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Computational Model

A molecular dynamics simulation and structure-based virtual screening to assess how STXBP1 mutations impact protein stability.

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Human Cortical Organoids

3D structures derived from iPSCs model early stages of cortical development, enabling assessment of neuronal architecture and maturation.

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Transplanted Human Cortical Organoids (t-hCO)

Human organoids transplanted into the neonatal rat cortex support in vivo evaluation of human neuron connectivity and sensory response.

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STXBP1 p.R292C Knock-in Mouse

A genetically modified mouse line carrying the R292C variant supports behavioral, developmental, and synaptic studies in vivo.

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C-Elegans

Worms expressing human STXBP1 in an unc-18-null background enable rapid functional testing of mutations and candidat

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STXBP1–GFP Fusion Protein System

A cell-based model expressing fluorescently tagged STXBP1 enables visualization and quantification of protein levels, localization, and aggregation in vitro.

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Our iPSC Lines in Israel

We’ve assembled a comprehensive collection of patient-derived and CRISPR-edited iPSC lines carrying key STXBP1 mutations, some developed in-house and others generously shared by our research collaborators. All lines are housed and maintained in Israel, differentiated into neurons, and paired with matched controls to enable clean, side-by-side comparisons.

DNA
Mutation		Protein
Change		Mutation
Type		Patient
Sample?		Control
Type		Cell
Source
c.874C>Tp.R292CMissenseYesFamilial, IsogenicFibroblast
c.874C>Tp.R292CMissenseYesFamilialBlood
c.874C>Tp.R292CMissenseNoWTIsogenic
c.1217G>Ap.R406HMissenseYesFamilialFibroblast
c.1099C>Tp.R367*NonsenseNoWTIsogenic
c.663+1G>CFrameshiftNoWTIsogenic
c.207delCp.Ser70fsFrameshiftYesFamilialBlood
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Let’s Collaborate

We actively collaborate with academic labs, biotech companies, and foundations around the world. If you’re working on STXBP1, or adjacent mechanisms like synaptic release, excitability, or proteostasis, our models may help answer your next question or accelerate your program.

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