Can I request a specific mutation that is not in your catalog?

Absolutely. We specialize in custom model generation. Our team can use CRISPR/Cas9 to introduce virtually any patient-specific mutation into our validated iPSC lines.

What are the advantages of a 3D model over a 2D model?

3D models (like spheroids or organoids) allow cells to interact in a more physiologically relevant three-dimensional space, promoting better maturation, more complex cell-cell interactions, and the formation of tissue-like structures that are not possible in a 2D monolayer.

My disease of interest is extremely rare, and patient samples are not available. Can you still develop a model?

Absolutely. This is a key strength of our platform. Using CRISPR/Cas9 genome editing, we don't need a patient sample. We only need the genetic information for the disease-causing mutation. We can then introduce that precise mutation into one of our well-characterized, healthy control iPSC lines to generate a high-quality disease model for your research.

What is the first step to starting a project?

The first step is a no-obligation consultation with our scientific team. We will discuss your specific research goals and challenges to determine how our platforms can best help you achieve them. This collaborative discussion ensures every project is tailored for success from the very beginning. We encourage you to reach out to start the conversation.

In what format are the cells delivered?

We offer flexibility. Cells can be delivered as cryopreserved vials of iPSCs, neural/myogenic progenitors, or as fully differentiated, assay-ready cultures in multi-well plates.

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Neuromuscular & Genetic Disease related Research Tools

Introduction Types Advantages Applications FAQs Related Product Sections Product List

Introduction

The path from a genetic discovery to a viable therapy for neuromuscular and genetic diseases is fraught with challenges. For too long, promising preclinical results have faltered in human trials, a translational gap largely driven by the inherent limitations of traditional animal models. To truly understand diseases like SMA, CMT, and Muscular Dystrophy, you need a system that recapitulates the intricate, human-specific biology of the neuromuscular junction.

At Creative Biolabs, we bridge that gap. We provide researchers with a suite of patient-relevant, iPSC-derived cell models, engineered to provide deeper mechanistic insights and enhance the predictive validity of your preclinical studies. Our team of expert scientists is ready to discuss your project. Let us help you design a study that will deliver the critical data you need to move your therapeutic program forward. Contact Our Team for More Information and to Discuss Your Project.

Alternatively, specific offerings can be found by directly consulting our comprehensive Product List.

Types of Our Cell Models for Neuromuscular & Genetic Diseases

To address the diverse pathologies of NMDs, which often involve both the central and peripheral nervous systems, Creative Biolabs provides an extensive portfolio of specialized neural cell models. All models are derived from our expertly validated human iPSCs, ensuring a consistent and physiologically relevant foundation for your research. We offer both patient-derived lines and CRISPR-engineered models with corresponding isogenic controls.

Types	Description
Specialized Neurons	High-purity populations of cortical, striatal, medium spiny, GABAergic, and cerebellar neurons to investigate CNS-specific disease mechanisms, synaptic dysfunction, and network hyperexcitability.
Astrocytes	Functional astrocytes for studying non-cell-autonomous toxicity, neuroinflammation, and metabolic support.
Motor & Sensory Neurons	Highly characterized spinal motor neurons and sensory neurons to model peripheral neuropathies, axon degeneration, and NMJ formation.
Schwann Cells	Myelinating and non-myelinating Schwann cells to study demyelination, remyelination, and glial support at the NMJ.
Advanced System Formats	Our neural cells are available as purified monocultures for focused mechanistic work, or integrated into advanced 2D co-culture systems and functional 3D organoids to model complex intercellular crosstalk and synaptic function.

The Creative Biolabs Advantage: Powering Your Pipeline

Integrating our cell models into your workflow delivers a distinct competitive advantage, enabling you to:

De-risk Clinical Translation

Increase preclinical predictive power with our human-centric models. Mitigate animal study failures, identify non-viable candidates sooner, and build a stronger, more translatable IND data package to accelerate your path to the clinic.

Unravel Complex Mechanisms with Precision

Use our isogenic, CRISPR-engineered cell lines for precise pathway dissection. Distinguish loss-of-function from toxic gain-of-function mechanisms and identify novel targets to uncover the true drivers of disease in our advanced co-culture systems.

Quantitative Functional Endpoints

Go beyond morphology. Our platforms enable sophisticated functional readouts like electrophysiology, calcium imaging, and muscle contractility. This provides robust, quantitative assessment of disease phenotypes and therapeutic rescue, generating actionable data for your program.

Patient-Specific & Genetically Defined

Harness patient-derived iPSCs or our CRISPR-engineered models. We create precise mutations in healthy cell lines, providing invaluable isogenic controls to isolate the true effect of a target gene variant for clear, reproducible results.

Functional 3D Neuromuscular Organoids

Our self-organizing organoids recapitulate the human motor unit's 3D architecture. Containing neurons, muscle, and Schwann cells, they form functional neuromuscular junctions (NMJs) with measurable synaptic activity.

Validated for High-Value Applications

Our models are purpose-built for advanced therapeutics like AAVs and ASOs. Assess capsid tropism, promoter specificity, and efficacy in a human-relevant system, generating crucial data to guide your development strategy before expensive in vivo studies.

Applications

Applications	Description
Disease Mechanism & Pathophysiology	Delve into the complex cellular and molecular underpinnings of rare diseases, from neomorphic gain-of-function effects to non-cell-autonomous pathologies.
High-Throughput Compound Screening	Rapidly screen small molecule or biologic libraries to identify lead compounds that rescue disease-specific phenotypes in a scalable, human-relevant system.
Target Identification & Validation	Use our genetically engineered models to confirm whether a specific gene or pathway is a viable therapeutic target before committing to larger-scale development programs.
Preclinical Validation of Gene Therapies	Assess the efficacy, safety, and specificity of next-generation therapeutics like antisense oligonucleotides (ASOs), siRNA, and AAV-based gene therapies in a controlled, human in vitro environment.
Biomarker Discovery	Analyze secreted factors and cellular proteins from our models to identify and validate novel biomarkers for diagnosing disease, tracking progression, or measuring therapeutic response.
Bridge the Translational Gap	Move beyond the limitations of animal models with human-specific systems that more accurately predict clinical responses and potential toxicities.
Increase Predictive Power	De-risk your therapeutic pipeline by identifying winners and eliminating failures earlier, saving invaluable time and resources.

A picture that presents Structural and molecular architecture of the neuromuscular junction. (Fralish, et al., 2021) (OA Literature)

Fig.1 Structural and molecular architecture of the neuromuscular junction.¹

FAQs

Can I request a specific mutation that is not in your catalog?
Absolutely. We specialize in custom model generation. Our team can use CRISPR/Cas9 to introduce virtually any patient-specific mutation into our validated iPSC lines.
What are the advantages of a 3D model over a 2D model?
3D models (like spheroids or organoids) allow cells to interact in a more physiologically relevant three-dimensional space, promoting better maturation, more complex cell-cell interactions, and the formation of tissue-like structures that are not possible in a 2D monolayer.
My disease of interest is extremely rare, and patient samples are not available. Can you still develop a model?
Absolutely. This is a key strength of our platform. Using CRISPR/Cas9 genome editing, we don't need a patient sample. We only need the genetic information for the disease-causing mutation. We can then introduce that precise mutation into one of our well-characterized, healthy control iPSC lines to generate a high-quality disease model for your research.
What is the first step to starting a project?
The first step is a no-obligation consultation with our scientific team. We will discuss your specific research goals and challenges to determine how our platforms can best help you achieve them. This collaborative discussion ensures every project is tailored for success from the very beginning. We encourage you to reach out to start the conversation.
In what format are the cells delivered?
We offer flexibility. Cells can be delivered as cryopreserved vials of iPSCs, neural/myogenic progenitors, or as fully differentiated, assay-ready cultures in multi-well plates.

Whether you are investigating the fundamental biology of synaptopathy or screening for the next breakthrough therapy, having a clinically relevant model is non-negotiable. Creative Biolabs provides the robust, validated tools you need to ask more complex questions and get more reliable answers. Contact Creative Biolabs today to discuss your specific needs and receive a personalized quote.