Duchenne Muscular Dystrophy PBMC

Duchenne Muscular Dystrophy PBMC for Neuromuscular and Gene Therapy Research

Duchenne Muscular Dystrophy PBMC products are sourced from IRB-consented donors clinically diagnosed with Duchenne muscular dystrophy (DMD) and processed within 24 hours of collection under standardized SOPs. These cryopreserved peripheral blood mononuclear cells are stored in CryoStor® CS10 and shipped on dry ice. Research Use Only (RUO).

Disease Basis and Why PBMC

• DMD is an X-linked recessive monogenic disease caused by mutations in the DMD gene that abolish functional dystrophin, leaving the muscle sarcolemma mechanically fragile and prone to contraction-induced damage.
• Repeated muscle fiber injury provokes a chronic inflammatory response, with immune cell infiltration of dystrophic muscle contributing to degeneration, impaired regeneration, and fibro-adipose replacement.
• Corticosteroids remain a standard of care precisely because dampening this inflammatory component modifies disease course, which makes circulating immune cells a legitimate object of study.
• PBMCs are central to gene therapy development in DMD: T cell responses to AAV capsid and to transgene-derived dystrophin epitopes are a recognized safety and durability consideration, and are commonly assessed by ex vivo assays such as ELISpot and intracellular cytokine staining.
• Donor PBMCs also provide a genomic DNA source for mutation confirmation and a starting material for reprogramming and cell model generation.
• Unlike plasma or serum, PBMCs support live-cell immunophenotyping, antigen-specific stimulation, and single-cell transcriptomics from genotype-annotated donors.

Donor Stratification Available

• DMD mutation type where documented: deletion, duplication, nonsense, or exon-skip amenable
• Age band and ambulatory status (ambulatory versus non-ambulatory)
• Corticosteroid therapy status and duration
• Disease-modifying therapy: exon-skipping antisense oligonucleotide, gene therapy, or treatment-naive
• Documented cardiac and respiratory involvement
• Sex and self-reported race/ethnicity; Becker muscular dystrophy donors available on request
• Matched healthy controls available

Product Features

• Research Use Only (RUO), cryopreserved PBMCs
• Clinically confirmed DMD donors
• Processed within 24 hours of collection
• Stored using CryoStor® CS10 freezing media
• Custom aliquots available; shipped on dry ice
• IRB-approved protocols and electronic informed consent, with parental or guardian permission for minors
• Screen LeukoLot™ available prior to bulk orders

De-identified Donor Data

• Verified DMD diagnosis
• Donor demographics: age, sex assigned at birth, race/ethnicity
• Self-reported allergies and infectious disease history
• Genotype, ambulatory status, and treatment history where available
• Additional DMD-specific data available upon request

Applications

• T cell response assays against AAV capsid and transgene-derived epitopes
• Immunophenotyping of T cell, B cell, monocyte, and NK compartments
• Ex vivo stimulation and cytokine release profiling
• Bulk and single-cell transcriptomic analysis
• Monocyte and macrophage polarization studies relevant to muscle inflammation and fibrosis
• Genomic DNA extraction for mutation confirmation and genotype-phenotype work
• Starting material for iPSC reprogramming and disease modeling
• Immunomodulatory drug screening and mechanism-of-action studies

Other Duchenne Muscular Dystrophy Specimen Types

• Duchenne Muscular Dystrophy Plasma
• Duchenne Muscular Dystrophy Serum
• Duchenne Muscular Dystrophy Whole Blood

Compliance and Quality Assurance

• IRB-approved collections and protocols
• 21 CFR Part 11-compliant e-consent system
• HIPAA-compliant donor data protection

Ordering & Customization

Duchenne Muscular Dystrophy PBMC samples are shipped on dry ice and available in custom aliquots. For pricing, availability, international orders, or regulatory requirements, please contact learnmore@sanguinebio.com to confirm documentation and compliance needs. To browse all donor cohorts and current stock, visit our human PBMCs page.