Do you offer custom models with a specific GLA mutation that isn't in your catalog?

Absolutely. Our custom engineering team specializes in creating bespoke cell models. We can introduce any clinically relevant GLA mutation into your cell type of choice. We invite you to share the specifics of your project with our team.

How do these engineered models compare to using primary cells from Fabry patients?

That's an excellent question. While patient cells offer a direct clinical snapshot, they often suffer from high variability between donors, limited expansion potential, and complex ethical/sourcing logistics. Our models provide an unlimited supply of genetically consistent cells with a matched isogenic control, ensuring your results are highly reproducible and directly attributable to the GLA mutation.

Are these cells suitable for use in automated high-throughput screening (HTS) platforms?

Yes, they are ideal for HTS applications. Our models are highly scalable and are delivered with optimized protocols for culture and plating in multi-well formats. The lot-to-lot consistency is critical for generating reliable data across large screening campaigns.

Can I differentiate the iPSCs into a cell type not listed?

Yes, the parental iPSC lines serve as a versatile starting point. If you have an established differentiation protocol for another lineage (e.g., endothelial cells, fibroblasts), you can apply it to our Fabry and isogenic control iPSCs.

What format are the cells delivered in?

The standard format is a cryovial containing a specific number of frozen cells (e.g., ≥1 million viable cells per vial).

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Fabry Disease Cell Model Products

Introduction Types Advantages Applications FAQs Related Product Sections Product List

Introduction

Fabry disease is an X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity. This enzyme deficiency, caused by mutations in the GLA gene, triggers the progressive buildup of globotriaosylceramide (Gb3) in cells. This accumulation triggers a cascade of cellular dysfunction, culminating in severe damage to the kidneys, heart, and nervous system. To unlock new therapeutic strategies, researchers require cellular models that accurately recapitulate the intricate pathophysiology of the disease.

Creative Biolabs provides a portfolio of advanced, patient-derived cellular models for Fabry disease. Engineered for physiological relevance and consistency, our models offer an unparalleled in vitro platform to investigate disease mechanisms, screen novel therapeutic compounds, and validate next-generation treatments.

Propel your research forward. Inquire about our Fabry disease models today.

To see all our products, please view the complete Product List.

Main Types

Our portfolio is continuously expanding. We currently offer specialized neural cell models for the following conditions, with custom development available for others.

Types	Description
Renal Cells	Podocyte and tubular epithelial models to study Fabry nephropathy.
Cardiovascular Cells	iPSC-derived cardiomyocytes and endothelial cells for investigating cardiac fibrosis and vascular dysfunction.
Fibroblasts	These are dermal fibroblasts representing a classic, versatile model for general screening.
Custom Models	Development of any cell type or specific GLA mutation upon request.

Advantages

Our engineered Fabry disease models provide distinct, tangible benefits over traditional approaches, empowering you to produce higher-quality data faster and giving you a powerful competitive edge in your research.

Bridge the Translational Gap

Generate clinically predictive data with human, patient-specific models. Increase the probability of success for your therapeutic candidates by leveraging systems that accurately replicate human pathophysiology, a common failure point for traditional animal models.

Streamline Your Discovery Pipeline

Accelerate your timeline from target to candidate. Our robust, assay-ready models are optimized for high-throughput screening (HTS), enabling you to efficiently identify and validate promising small molecules, gene therapies, or enzyme replacement strategies.

Uncover Novel Disease Mechanisms

Interrogate the precise molecular consequences of Gb3 accumulation in disease-critical cell types like cardiomyocytes and podocytes. Discover novel targets and pathways that are often missed by less complex or non-human systems.

Achieve Unparalleled Reproducibility

Eliminate the variability and inconsistent supply of primary cells. Our iPSC-derived models provide a genetically stable, scalable, and virtually unlimited resource, ensuring your results are consistent and your data is reliable, experiment after experiment.

Refine Your Preclinical Strategy

Conduct more efficient and ethical research. By integrating highly relevant human in vitro models, you can reduce reliance on costly, complex animal studies and align your program with the 3Rs (Replacement, Reduction, Refinement) principles, all while generating more predictive data.

Versatile Applications to Drive Your Research Forward

Our Fabry disease models are robust, validated tools engineered for a wide array of applications, empowering you to answer critical questions at every stage of the drug discovery pipeline.

Applications	Description
Accelerate Therapeutic Candidate Screening	Efficiently evaluate novel compounds, from small molecules to biologics. Our models provide a consistent and scalable platform for screening pharmacological chaperones, substrate reduction therapies, and enzyme replacement therapy (ERT) enhancers in both low- and high-throughput formats.
Validate Gene Therapies and Advanced Modalities	Confidently assess the efficacy of next-generation therapeutics. Use our clinically relevant cell models to measure the transduction efficiency of AAV vectors, confirm protein expression from mRNA constructs, and quantify the functional correction achieved by gene editing approaches.
Unravel Core Disease Mechanisms	Move beyond screening to deep biological discovery. Investigate the downstream cellular consequences of Gb3 accumulation, perform pathway analysis to identify novel drug targets, and validate potential biomarkers in a controlled, human-cell-based system.
Assess Preclinical Efficacy and Safety	Generate crucial early-stage data for your lead candidates. Our models serve as an invaluable tool to demonstrate proof-of-concept efficacy by measuring substrate clearance, while simultaneously monitoring for potential off-target cellular toxicities before advancing to more complex systems.

A picture that presents the molecular Mechanisms of Fabry Disease. (Amodio, et al., 2022) (OA Literature)

Fig.1 The enzyme α-galactosidase A cleaves off the third sugar residue. In Fabry disease, this enzyme is deficient, and therefore the substrate Gb3 accumulates in the lysosomes of almost all cell types.¹

FAQs

Do you offer custom models with a specific GLA mutation that isn't in your catalog?
Absolutely. Our custom engineering team specializes in creating bespoke cell models. We can introduce any clinically relevant GLA mutation into your cell type of choice. We invite you to share the specifics of your project with our team.
How do these engineered models compare to using primary cells from Fabry patients?
That's an excellent question. While patient cells offer a direct clinical snapshot, they often suffer from high variability between donors, limited expansion potential, and complex ethical/sourcing logistics. Our models provide an unlimited supply of genetically consistent cells with a matched isogenic control, ensuring your results are highly reproducible and directly attributable to the GLA mutation.
Are these cells suitable for use in automated high-throughput screening (HTS) platforms?
Yes, they are ideal for HTS applications. Our models are highly scalable and are delivered with optimized protocols for culture and plating in multi-well formats. The lot-to-lot consistency is critical for generating reliable data across large screening campaigns.
Can I differentiate the iPSCs into a cell type not listed?
Yes, the parental iPSC lines serve as a versatile starting point. If you have an established differentiation protocol for another lineage (e.g., endothelial cells, fibroblasts), you can apply it to our Fabry and isogenic control iPSCs.
What format are the cells delivered in?
The standard format is a cryovial containing a specific number of frozen cells (e.g., ≥1 million viable cells per vial).

At Creative Biolabs, we prioritize the highest standards of scientific excellence. We understand that your research is only as good as the tools you use. That is why every vial of our Fabry Disease Cell Models is backed by our quality guarantee. Our stringent production and QC processes ensure unparalleled reproducibility, giving you absolute confidence in your data. Reach out to our specialists today to find the perfect model in our catalog that will accelerate your Fabry disease research.