Friedreich’s Ataxia PBMC

Friedreich’s Ataxia PBMC for Research

Friedreich’s Ataxia PBMC products are sourced from donors clinically diagnosed with Friedreich’s ataxia and processed under stringent conditions to support research. These cryopreserved peripheral blood mononuclear cells (PBMCs) enable studies of mitochondrial dysfunction, oxidative stress, and immune involvement in neurodegenerative disease.

About Friedreich’s Ataxia

Friedreich’s ataxia is an autosomal recessive neurodegenerative disorder caused in most cases by a biallelic GAA trinucleotide repeat expansion in the first intron of the FXN gene. The expansion silences FXN transcription and produces a deficiency of frataxin, a mitochondrial protein required for iron-sulfur cluster biogenesis. The downstream consequences — mitochondrial iron accumulation, impaired oxidative phosphorylation, and heightened sensitivity to oxidative stress — are measurable in patient-derived PBMCs, which makes these cells a practical, accessible surrogate tissue for a disease whose primary targets (dorsal root ganglia, spinal cord, cerebellum, myocardium) are not.

Because GAA repeat length correlates inversely with age of onset and residual frataxin level, repeat-length data materially affects study design. Donors also commonly present with hypertrophic cardiomyopathy, scoliosis, and diabetes mellitus, so comorbidity annotation matters when interpreting immune and metabolic readouts.

Donor Stratification Available

• Genetic confirmation — GAA repeat expansion confirmed; repeat length where tested
• Age of onset — early-onset and late-onset (LOFA) presentations
• Disease severity — ambulatory status and functional scores where recorded
• Cardiac involvement — presence of hypertrophic cardiomyopathy
• Comorbidities — diabetes mellitus, scoliosis
• Treatment status — including donors on approved frataxin-pathway therapies

Product Features

• Research Use Only (RUO), cryopreserved PBMCs
• Clinically confirmed Friedreich’s ataxia donors
• Processed within 24 hours of collection
• Stored using CryoStor® CS10 freezing media
• IRB-approved protocols and electronic informed consent
• Custom aliquot sizes and repeat draws from the same donor where available

De-identified Donor Data

• Verified Friedreich’s ataxia diagnosis
• Donor demographics: age, sex assigned at birth, race/ethnicity
• Self-reported allergies and infectious disease history
• Additional Friedreich’s ataxia-specific data available upon request

Applications

• Frataxin expression and restoration assays
• Mitochondrial function, iron handling, and oxidative stress studies
• Biomarker discovery and validation
• Drug screening and therapeutic development, including gene therapy and frataxin-upregulation approaches
• Immune pathway analysis in Friedreich’s ataxia pathophysiology
• Transcriptomic and proteomic profiling

Other Friedreich’s Ataxia Specimen Types

Matched material from the same donor cohort is available as Friedreich’s ataxia plasma, serum, and whole blood. If you need a larger cell yield than a standard PBMC draw provides, a disease-state leukopak collection can be arranged.

Quality and Compliance

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

Ordering & Shipping

Friedreich’s Ataxia PBMC samples are shipped on dry ice and available in custom aliquots. For international orders or regulatory requirements, please contact learnmore@sanguinebio.com to confirm documentation and compliance needs. For the full specimen range, see our human PBMCs collection.