Can I request a model with a specific, rare SMN1 point mutation?

Yes. We have a bank of existing patient-derived lines and also offer custom engineering services to introduce specific pathogenic mutations into a cell line of your choice.

Can these models be used to study mitochondrial dysfunction in SMA?

Absolutely. Our models, particularly those derived from severe SMA phenotypes, are ideal for investigating the mitochondrial defects, ROS production, and impaired mitophagy that are now recognized as key features of SMA pathology.

Do you offer control cell lines?

Yes. For every SMA model, we can provide isogenic controls (where applicable) or healthy, unaffected donor-derived cell lines that have been processed and validated using the same methods.

Can I use these cells for in vivo studies?

Our cell models are primarily intended for in vitro use. However, certain cell types may be suitable for transplantation studies. Please discuss your specific needs with our technical support team.

How do I choose the right model for my research?

Our scientific team is here to help. Contact us to schedule a free consultation. We can discuss your research goals and recommend the model (or custom project) that will best suit your needs.

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Spinal Muscular Atrophy (SMA) Cell Model Products

Introduction Types Advantages Applications FAQs Related Product Sections Product List

Introduction

While the advent of therapies targeting gene replacement and pre-mRNA splicing modulation has fundamentally redefined the therapeutic landscape for Spinal Muscular Atrophy (SMA), significant lacunae persist in our comprehension of its comprehensive pathophysiology. Addressing these gaps to architect the next generation of therapeutics is contingent upon the availability of robust, reproducible, and clinically translatable cellular systems. Such models must meticulously recapitulate the intricate genetic architecture of this debilitating motor neuron disease.

To this end, Creative Biolabs has developed an extensive portfolio of cellular models for SMA, encompassing both meticulously engineered lines and patient-derived cells, including induced pluripotent stem cells (iPSCs). These biological platforms are engineered for the high-throughput screening of novel therapeutic entities, the rigorous investigation of fundamental disease mechanisms, and the critical validation of treatment efficacy. Our models provide the requisite genetic fidelity and uncompromising quality essential for the generation of decisive, high-impact data. Partner with our experts to find the optimal SMA cell model for your research. Contact us to get started.

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

Types of Spinal Muscular Atrophy (SMA) Cell Model Products

Creative Biolabs offers a diverse portfolio of SMA cell models to meet the specific needs of your research. Our product lines are categorized to help you quickly find the most appropriate system for your experimental goals.

Types	Description
iPSC-Derived Motor Neurons	The gold standard for studying SMA neurodegeneration, these models are differentiated from patient-derived induced pluripotent stem cells (iPSCs) or are custom-engineered. They express key neuronal markers (e.g., HB9, ChAT, Islet1) and are ideal for investigating disease-specific mechanisms like axonal transport defects, neuromuscular junction (NMJ) pathology, and neuronal cell death.
Patient-Derived Somatic Cells	These models capture the native genetic background of SMA patients and are invaluable for studying the systemic and multi-organ aspects of the disease. Fibroblasts: Readily expandable and robust, these adherent cells are perfect for analyzing systemic cellular defects such as mitochondrial dysfunction, impaired autophagy, and altered protein stability. Lymphoblasts: These suspension cell lines, immortalized from patient samples, are suited for large-scale biochemical analysis, high-yield protein and RNA extraction, and screening applications.
Engineered Cell Lines	Designed for high-throughput screening (HTS) and consistent pathway analysis, these models provide a highly controlled experimental background. They typically consist of stable cell lines (e.g., HEK293T, HeLa) engineered with CRISPR/Cas9 to carry homozygous SMN1 deletions and a defined number of SMN2 copies. Reporter constructs (e.g., GFP, Luciferase) can also be incorporated to facilitate screening assays.
Custom Model Generation	For research requiring a unique genetic background not available in our catalog, we offer bespoke model generation services. Our expert team can use CRISPR/Cas9 gene editing to: Introduce novel or rare patient-specific SMN1 point mutations. Create precise isogenic control lines from patient-derived cells. Knock-in reporter tags to endogenous genes for detailed functional studies.

Advantages

Partnering with Creative Biolabs provides a decisive edge by turning common research challenges into catalysts for discovery.

Accelerate Timelines & De-Risk Development

Bypass the unpredictable, time-intensive process of model development. Our validated, ready-to-use models let you start your key experiments immediately, saving critical resources.

Enhance Predictive Power

Generate more clinically relevant data. By reflecting the true genetic complexity of SMA, our models ensure your findings on drug efficacy and disease mechanisms are more translationally powerful.

Ensure Data Integrity & Reproducibility

Rely on our industrial-grade quality control for genetically stable and pure cell lines. This minimizes experimental variability and delivers the consistent, high-quality data needed for publications and regulatory success.

Uncover Deeper Biological Insights

Go beyond simple knockouts to probe the critical cellular pathologies at the heart of SMA, including protein stability, tissue-specific autophagy, and mitochondrial health.

Applications

Our SMA cell models are optimized for a wide range of cutting-edge research applications.

Applications	Description
High-Throughput Drug Screening	Screen small molecules, ASOs, or other novel compounds for their ability to modify SMN2 splicing or target downstream pathways.
Therapeutic Efficacy Testing	Assess the effectiveness of gene therapies, antisense oligonucleotides, and other experimental treatments at a cellular level.
Mechanism of Disease Studies	Investigate the fundamental pathobiology of SMA, including axonal transport defects, neuromuscular junction (NMJ) integrity, mitochondrial dysfunction, and tissue-specific autophagy responses.
Biomarker Discovery	Use patient-derived cells to identify and validate novel biomarkers that correlate with disease severity or therapeutic response.
Genotype-Phenotype Correlation	Directly study how specific SMN1 mutations and SMN2 copy numbers influence cellular phenotypes and protein function.

A picture that presents Model for motoneuron degeneration and the underlying signaling network in SMA. (Fralish, et al., 2021) (OA Literature)

Fig.1 Model for motoneuron degeneration and the underlying signaling network in SMA.¹

FAQs

Can I request a model with a specific, rare SMN1 point mutation?
Yes. We have a bank of existing patient-derived lines and also offer custom engineering services to introduce specific pathogenic mutations into a cell line of your choice.
Can these models be used to study mitochondrial dysfunction in SMA?
Absolutely. Our models, particularly those derived from severe SMA phenotypes, are ideal for investigating the mitochondrial defects, ROS production, and impaired mitophagy that are now recognized as key features of SMA pathology.
Do you offer control cell lines?
Yes. For every SMA model, we can provide isogenic controls (where applicable) or healthy, unaffected donor-derived cell lines that have been processed and validated using the same methods.
Can I use these cells for in vivo studies?
Our cell models are primarily intended for in vitro use. However, certain cell types may be suitable for transplantation studies. Please discuss your specific needs with our technical support team.
How do I choose the right model for my research?
Our scientific team is here to help. Contact us to schedule a free consultation. We can discuss your research goals and recommend the model (or custom project) that will best suit your needs.

Unraveling the complexities of SMA requires tools you can trust. Creative Biolabs is committed to providing the scientific community with precisely engineered, rigorously validated, and clinically relevant cell models. By removing the guesswork from your model system, we enable you to focus on what matters most: advancing the science and developing therapies for patients in need. Contact us for detailed technical specifications or to request a formal quote.