MPS II Hunter Syndrome PBMC
MPS II Hunter Syndrome PBMC from IRB-consented donors with confirmed mucopolysaccharidosis type II, an X-linked lysosomal storage disorder caused by iduronate-2-sulfatase (IDS) deficiency. Suitable for enzyme activity assays, IDS variant characterisation, gene therapy proof-of-concept and immunophenotyping.
MPS II Hunter Syndrome PBMC for Lysosomal Storage Disease Research
MPS II Hunter Syndrome PBMC are isolated from IRB-consented donors with a clinically confirmed diagnosis of mucopolysaccharidosis type II and processed under standardised conditions. MPS II is an X-linked recessive lysosomal storage disorder caused by pathogenic variants in IDS, which encodes iduronate-2-sulfatase. Loss of enzyme activity blocks a required step in glycosaminoglycan catabolism, leading to progressive accumulation of dermatan sulfate and heparan sulfate in lysosomes. These nucleated cells support mechanistic studies, biomarker discovery and therapeutic development.
IDS Deficiency, X-Linked Inheritance and Why PBMCs
- MPS II is monogenic. Deficient iduronate-2-sulfatase activity is the defining defect, and the resulting substrate accumulation drives the multisystem phenotype — this is a genetic enzyme deficiency, not an immune-mediated disease.
- Because IDS is X-linked, the condition affects males almost exclusively, with carrier females typically unaffected. Donor sex and family history are therefore meaningful metadata.
- Peripheral blood mononuclear cells are nucleated and lysosome-containing, which makes them a practical primary cell source for enzyme activity measurement, substrate accumulation studies and lysosomal biology readouts.
- PBMCs carry the donor’s IDS genotype, supporting variant characterisation, genotype–phenotype correlation and residual enzyme activity work.
- As a nucleated cell product PBMCs are appropriate for flow cytometry, immunophenotyping, bulk and single-cell RNA sequencing, and functional cell-based assays.
- Patient-derived PBMCs are widely used to evaluate enzyme replacement uptake, gene therapy and gene editing strategies, and to test cross-correction concepts in a cell system carrying the authentic genetic defect.
Donor Stratification Available
- Attenuated versus severe (neuronopathic) clinical phenotype as characterised by the treating physician
- Documented IDS genotype or variant class where available
- Paediatric versus adult donors
- Treatment status: enzyme replacement therapy, prior haematopoietic stem cell transplant, or treatment-naive
- Anti-drug antibody status where documented
- Matched healthy controls available
Product Features
- Research Use Only (RUO)
- PBMC isolated from clinically confirmed MPS II Hunter syndrome donors
- Rigorous donor screening and sample quality checks
- Standardised collection and processing SOPs
- Suitable for downstream applications such as flow cytometry, RNA-seq, ELISA and qPCR
- Custom aliquot sizes available on request
De-identified Donor Data
- Verified MPS II diagnosis with diagnostic method
- Age, sex, race/ethnicity and medication history
- Documented disease severity or stage
- Genotype and enzyme activity results where available
- Optional: comorbidities, laboratory values and clinical history
Applications
- Iduronate-2-sulfatase enzyme activity assay development and validation
- IDS variant characterisation and genotype–phenotype correlation
- Lysosomal storage and glycosaminoglycan accumulation cell models
- Gene therapy and gene editing proof-of-concept studies in patient-derived cells
- Enzyme replacement uptake and cross-correction research
- Immunophenotyping and immune characterisation by flow cytometry
- Transcriptomic and proteomic profiling
- Biomarker validation and therapeutic screening
Other MPS II Hunter Syndrome Specimen Types
- MPS II Hunter Syndrome Whole Blood
- Mucopolysaccharidosis PBMC
- Mucopolysaccharidosis Plasma
- Mucopolysaccharidosis Serum
Compliance and Quality Assurance
- IRB-approved protocols
- Informed donor consent
- Standardized collection and processing SOPs
- HIPAA-compliant donor data handling
Ordering & Customization
Samples are available in both standard and custom volumes to meet your research needs. For pricing and current availability, or for international shipments and country-specific documentation requirements, please contact us at learnmore@sanguinebio.com to ensure compliance with your local regulations. To browse donor cohorts across our full inventory, visit our human PBMCs page.
Protocols & Documentation
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PBMC Isolation from Whole Blood
Standard operating procedure for isolating peripheral blood mononuclear cells from whole blood using density-gradient separation.
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Immune Cell Isolation
Guidelines for isolating immune cell populations with validated enrichment steps, purity checkpoints, and documentation.
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Choosing the Right PBMC Configuration
Reference guide comparing PBMC formats, cryopreservation states, and study-fit recommendations for your application.
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Thawing Cryopreserved PBMC
Validated thawing protocol to recover viable cryopreserved PBMCs while minimizing activation and loss of function.
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Informed Consent Form (ICF)
Available upon request — confirms donor consent for research use and downstream commercialization.
PBMC
Frequently Asked Questions
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YES – All collections are conducted under IRB-approved protocols and electronic informed consent. Sanguine utilizes Advarra and WCG IRB for oversight.
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YES – all our products are research use only (RUO).
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You can find our full product catalog here.
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Storage depends on sample type but often cryopreserved samples stored in liquid nitrogen can be stored for years.
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Extensive customization is available. To discuss your project request a quote or email us at learnmore@sanguinebio.com.
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Sanguine offers flexible prospective collection services tailored to fit your research. For more information and to request a quote, please see: our prospective biospecimen collection services page.
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Timelines depend on condition, sample type, and I/E criteria but we often start collection within 2 weeks of signed agreement.
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YES – we have in-stock inventory. You can also email us at learnmore@sanguinebio.com as we continually get new samples in our inventory.
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Each sample from a different individual – Unique donor means each sample comes from a different person, ensuring biological diversity in your study.
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YES – Unique donors can be specified and guaranteed based on your requirements.
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For information about sample quality, please see: Quality and Compliance
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YES – “IRB-approved collection protocols” and IRB approval documentation available upon request. Sanguine utilizes two internationally-recognized IRBs (Advarra and WCG IRB) for review and approval.
Ask a Question
Need a custom PBMC cohort?
Our scientific team can scope prospective collections with donor-specific I/E criteria, typically starting within 2 weeks of agreement.