What specific GAA mutations are available in your models?

Our panel includes various clinically relevant GAA mutations, covering common infantile and late-onset forms of the disease. Please contact our scientific team for a complete list to help you select the ideal model for your research.

Are these cells suitable for in vivo studies?

Our models are intended for in vitro use. They are excellent for preclinical validation and generating robust data to inform, optimize, and de-risk your subsequent animal studies, ensuring a higher probability of in vivo success.

Can I request a custom-developed cell model?

Yes, our custom services team can partner with you. We can engineer a specific GAA mutation or develop a unique cell line from a particular patient population to precisely meet your project's scientific goals.

Do you offer cell models for other lysosomal storage disorders?

Yes. Beyond Pompe disease, we offer an extensive portfolio of expertly validated cell models for many other lysosomal storage disorders. Please browse our complete catalog or contact us to discuss your specific area of interest.

Are these cells tested for mycoplasma?

Absolutely. Every cell line is rigorously tested and certified free of mycoplasma and other common contaminants, ensuring the high purity and integrity required for generating reproducible and reliable research data for your publications.

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Pompe Disease Cell Model Products

Introduction Types Advantages Applications FAQs Related Product Sections Product List

Introduction

Pompe disease is a severe lysosomal disorder caused by GAA enzyme deficiency, leading to progressive muscle and heart damage. While enzyme replacement therapy (ERT) helps, its limitations drive the urgent search for novel treatments like gene therapy. Progress requires predictive research models that accurately mimic human pathology.

To meet this critical need, Creative Biolabs provides expertly generated, patient-derived cellular models. Our portfolio, including functional iPSCs, cardiomyocytes, and skeletal myoblasts, empowers researchers to unravel disease mechanisms, screen for effective compounds, and accelerate the development of next-generation cures. Partner with us to advance your therapeutic pipeline. Inquire about our Pompe Disease Cell Models today.

For a complete list of products, please see the Product List section.

Types

Types	Description
Patient-Derived Fibroblasts	Sourced directly from Pompe disease patients, these primary cells retain the complete native genetic context of the individual. They are an invaluable resource for studying the effects of specific, and often rare, patient mutations, for initial biomarker discovery, and as a foundational source for iPSC reprogramming projects.
Induced Pluripotent Stem Cell (iPSC)-Derived Models	iPSC-Derived Cardiomyocytes: Essential for modeling the severe cardiac hypertrophy characteristic of infantile-onset Pompe disease and for assessing cardiotoxicity. iPSC-Derived Skeletal Myocytes: Crucial for studying the progressive muscle weakness and vacuolation that defines late-onset Pompe disease and for testing therapies aimed at muscle restoration. iPSC-Derived Neurons: Provide a vital platform to investigate the central nervous system (CNS) involvement and neurological aspects of the disease, an area of growing research interest.
Genetically Engineered Cell Lines	For projects requiring scalability, consistency, and speed, we provide robust cell lines (e.g., HEK293) engineered with clinically relevant GAA mutations using CRISPR/Cas9. These models are the ideal choice for large-scale compound screening, rapid mechanism-of-action (MoA) studies, and initial proof-of-concept experiments.

Advantages

Leverage the power of our advanced cell models to gain a competitive edge in your research.

Accelerate Discovery

Move your research forward faster with well-characterized, disease-relevant models that eliminate the time and resources required for in-house model development.

Enhance Predictive Validity

Our patient-derived and genetically engineered models offer a more accurate representation of human disease pathology compared to traditional immortalized cell lines, leading to more reliable and translatable results.

High-Throughput Screening Compatibility

Our cell models are optimized for high-throughput screening (HTS) and high-content analysis (HCA), enabling the rapid evaluation of large compound libraries.

Mechanistic Insights

Delve deeper into the cellular and molecular mechanisms underlying Pompe disease pathogenesis in a controlled in vitro environment.

Expert Technical Support

Our team of experienced cell biology specialists is available to provide comprehensive technical support and guidance for your experiments.

Applications

Our Pompe Disease Cell Models are ideal for a wide range of research applications:

Applications	Description
Disease Modeling	Investigate the fundamental aspects of Pompe disease pathology, including lysosomal dysfunction, impaired autophagy, and the downstream cellular consequences of glycogen accumulation.
Drug Discovery and Development	Screen for novel small molecules, biologics, and gene therapies. Evaluate the efficacy and mechanism of action of lead compounds. Assess the potential for drug-induced toxicity in a disease-specific context.
Enzyme Replacement Therapy (ERT) Research	Optimize existing ERT strategies and develop next-generation therapies with improved efficacy and cellular uptake.
Gene Therapy Development	Test the efficiency and safety of novel gene therapy vectors and delivery systems.
Biomarker Discovery	Identify and validate novel biomarkers for disease diagnosis, prognosis, and therapeutic response.

A picture that presents the Pathogenic cascade of muscle damage in Pompe disease. (Meena, et al., 2020) (OA Literature)

Fig.1 Pathogenic cascade of muscle damage in Pompe disease. ¹

FAQs

What specific GAA mutations are available in your models?
Our panel includes various clinically relevant GAA mutations, covering common infantile and late-onset forms of the disease. Please contact our scientific team for a complete list to help you select the ideal model for your research.
Are these cells suitable for in vivo studies?
Our models are intended for in vitro use. They are excellent for preclinical validation and generating robust data to inform, optimize, and de-risk your subsequent animal studies, ensuring a higher probability of in vivo success.
Can I request a custom-developed cell model?
Yes, our custom services team can partner with you. We can engineer a specific GAA mutation or develop a unique cell line from a particular patient population to precisely meet your project's scientific goals.
Do you offer cell models for other lysosomal storage disorders?
Yes. Beyond Pompe disease, we offer an extensive portfolio of expertly validated cell models for many other lysosomal storage disorders. Please browse our complete catalog or contact us to discuss your specific area of interest.
Are these cells tested for mycoplasma?
Absolutely. Every cell line is rigorously tested and certified free of mycoplasma and other common contaminants, ensuring the high purity and integrity required for generating reproducible and reliable research data for your publications.

Creative Biolabs is dedicated to empowering the scientific community in the fight against Pompe disease. We partner with researchers by providing state-of-the-art tools and expert support, enabling you to accelerate therapeutic development, uncover new insights, and advance your critical work. Contact us today to discuss your specific research needs and to receive a personalized quote for our Pompe Disease Cell Model Products.