Pompe Disease PBMC
About: Pompe Disease PBMC samples are isolated from donors with clinically and genetically confirmed Pompe Disease (PD). Ideal for studying lysosomal glycogen accumulation, immune activation, and the cellular impact of acid alpha-glucosidase (GAA) deficiency in PD.
Pompe Disease PBMC for Research
Pompe Disease PBMC samples are collected from donors clinically diagnosed with Pompe disease (acid alpha-glucosidase / GAA deficiency) and processed under controlled conditions to support immunology and rare-disease research. These cryopreserved peripheral blood mononuclear cells (PBMCs) support studies of immune response to enzyme replacement therapy, inflammatory signaling, and biomarker discovery in Pompe disease.
Product Features
- Research Use Only (RUO), cryopreserved Pompe disease PBMC samples
- Clinically confirmed Pompe disease donors
- Available in cell counts ranging from 5 million to 2 billion
- Processed within 24 hours of collection
- Preserved using CryoStor® CS10 freezing media
- IRB-approved protocols and electronic informed consent
- Screening (LeukoLot™) available prior to bulk orders
De-identified Donor Data
- Verified Pompe disease diagnosis
- Donor demographics: age, sex assigned at birth, race/ethnicity
- Self-reported allergies and infectious disease history
- Additional Pompe disease-specific clinical data available on request
Applications
- Biomarker discovery and validation
- Immune-pathway analysis in Pompe disease
- Enzyme-replacement-therapy immunogenicity and drug-development studies
- Transcriptomic and proteomic profiling
Quality and Compliance
- IRB-approved collections and protocols
- 21 CFR Part 11-compliant e-consent
- HIPAA-compliant donor data protection
Ordering & Shipping
Pompe Disease PBMC samples ship on dry ice in standard or custom aliquots. For international orders or regulatory documentation, contact learnmore@sanguinebio.com. Browse all human PBMCs or request a custom disease-state collection.
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 – with the exception of GMP leukopaks, all our products are research use only (RUO).
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Our complete catalog can be found here: https://sanguinebio.com/products/
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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 colleciton services to tailored to fit your research. For more information and request a quote, please see: https://sanguinebio.com/prospective-biospecimen-collection-services/
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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 which can be found here https://sanguinebio.com/products/?pro_inventory=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: https://sanguinebio.com/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.