Which dystonia-causing mutations are available in your models?

Our premier models are engineered to be heterozygous for the c.907_909delGAG mutation in the TOR1A gene. This specific trinucleotide deletion constitutes the preponderant genetic etiology underlying most diagnosed cases of early-onset, or DYT1, dystonia. We are continuously expanding our library to include other genetic forms.

How are the cells delivered?

Our neuronal cells are typically shipped cryopreserved in a specialized medium to ensure maximum viability upon arrival.

What cultural information is provided?

Each order includes a detailed, optimized protocol for thawing, plating, and maintaining the neurons in culture to ensure successful experiments.

Why are cholinergic neurons important for dystonia research?

Scientific evidence strongly points to the dysfunction of cholinergic circuits, particularly in the striatum and among spinal motor neurons, as a central mechanism in dystonia pathology.

Can you develop a custom model from my lab's patient samples?

Yes, Creative Biolabs offers custom model generation services. We can create iPSC lines and differentiated neurons from patient samples provided by your team. Contact us to discuss your project.

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Dystonia Cell Model Products

Introduction Types Advantages Applications FAQs Related Product Sections Product List

Introduction

The study of dystonia, a debilitating neurological movement disorder, has been persistently hindered by animal models that inadequately recapitulate human-specific pathology, particularly for hereditary forms like DYT1. This critical gap impedes mechanistic discovery and therapeutic development.

Creative Biolabs confronts this challenge with a portfolio of advanced human neuronal models. Employing induced pluripotent stem cell (iPSC) and direct conversion technologies, we generate patient-specific neurons that exhibit disease-relevant phenotypes in vitro. These platforms provide an unparalleled system for dissecting pathophysiology and screening therapeutics with higher fidelity. Contact our specialists to advance your dystonia research.

For a detailed enumeration of our specific offerings, please consult our comprehensive Product List.

Types of Dystonia Cell Models

To meet the diverse needs of dystonia research, Creative Biolabs provides a comprehensive portfolio of well-characterized and validated cell models. Our offerings are based on the latest breakthroughs in cellular reprogramming and are designed to provide the most physiologically relevant platforms for your studies.

Types	Description
iPSC-Derived Neurons	We generate high-purity cultures of specific neuronal subtypes implicated in dystonia, including spinal motor neurons and striatal cholinergic interneurons, all derived from patient-specific iPSCs.
Directly Converted Neurons (diNs)	For studies where cellular aging is a relevant factor, we can directly convert patient fibroblasts into neurons, a process that retains many age-associated epigenetic signatures.
Genetically-Edited Isogenic Controls	Using CRISPR/Cas9 technology, we can correct the disease-causing mutation in a patient's iPSC line, creating a perfect isogenic control for your experiments.

Advantages: Your Research, Accelerated

Integrating our Dystonia Cell Models into your workflow gives you a distinct competitive advantage.

Human-Specific Disease Modeling

Access a unique window into human neuropathology. Our models are engineered to reveal critical, species-specific disease characteristics, such as LMNB1 dysregulation, leading to more predictive and translatable results.

Deep Mechanistic Insights

Go beyond symptoms to explore the core molecular drivers of the disease. Our models are the ideal platform to dissect pathways related to nuclear integrity, protein transport, and neuronal network dysfunction.

High-Caliber Drug Discovery Platform

Screen therapeutic compounds with confidence. The robust and reproducible phenotypes, such as impaired nuclear transport, serve as a clear readout for assessing drug efficacy and identifying compounds that can restore normal cellular function.

Enable Personalized Medicine

By utilizing models derived from different patient backgrounds, you can investigate how genetic variance influences disease presentation and treatment response.

Ready-to-Use and Expert-Supported

Our models are delivered fully characterized and ready for your experiments, backed by comprehensive protocols and the industry-leading support of our neuroscience team.

Applications

Our Dystonia Cell Models are powerful tools for a wide range of research applications:

Applications	Description
Pathophysiology Studies	Investigate the functional consequences of dystonia-causing mutations on neuronal development, survival, and network function.
High-Throughput Screening (HTS)	Identify and validate novel small molecules, biologics, or gene therapies that can ameliorate cellular defects.
Target Identification & Validation	Explore novel therapeutic targets, such as the LMNB1 pathway, and validate their role in the disease cascade.
Biomarker Discovery	Identify and characterize soluble or cell-based biomarkers that correlate with disease state or therapeutic response.
Neurodevelopmental Research	Model the early stages of neuronal dysfunction to understand how dystonia develops over time.

A picture that presents Neuronal networks involved in dystonia. (Li, et al., 2024) (OA Literature)

Fig.1 Neuronal networks involved in the pathogenesis of dystonia and existing evidence.¹

FAQs

Which dystonia-causing mutations are available in your models?
Our premier models are engineered to be heterozygous for the c.907_909delGAG mutation in the TOR1A gene. This specific trinucleotide deletion constitutes the preponderant genetic etiology underlying most diagnosed cases of early-onset, or DYT1, dystonia. We are continuously expanding our library to include other genetic forms.
How are the cells delivered?
Our neuronal cells are typically shipped cryopreserved in a specialized medium to ensure maximum viability upon arrival.
What cultural information is provided?
Each order includes a detailed, optimized protocol for thawing, plating, and maintaining the neurons in culture to ensure successful experiments.
Why are cholinergic neurons important for dystonia research?
Scientific evidence strongly points to the dysfunction of cholinergic circuits, particularly in the striatum and among spinal motor neurons, as a central mechanism in dystonia pathology.
Can you develop a custom model from my lab's patient samples?
Yes, Creative Biolabs offers custom model generation services. We can create iPSC lines and differentiated neurons from patient samples provided by your team. Contact us to discuss your project.

Creative Biolabs is committed to providing the scientific community with the most advanced and clinically relevant tools to solve the puzzle of dystonia. By moving beyond the limitations of traditional models, we empower you to explore the true human biology of the disease. Contact our scientific experts today to discuss how our advanced dystonia cell models can accelerate your research and development programs.