Facioscapulohumeral Muscular Dystrophy PBMC

Facioscapulohumeral Muscular Dystrophy PBMC for Genetic Neuromuscular Disease Research

Facioscapulohumeral Muscular Dystrophy PBMC products are sourced from IRB-consented donors clinically diagnosed with facioscapulohumeral muscular dystrophy (FSHD) and processed within 24 hours of collection under stringent conditions. FSHD is a monogenic disorder of epigenetic gene regulation, not an autoimmune disease. Cryopreserved peripheral blood mononuclear cells provide accessible, genotype-matched patient cells for genetic, epigenetic, and cell-model work.

FSHD Genetics and Why PBMCs

• FSHD is caused by de-repression of DUX4, a transcription factor normally silenced in somatic tissue, whose aberrant expression in skeletal muscle activates a toxic transcriptional programme leading to myofibre death.
• FSHD type 1 arises from contraction of the D4Z4 macrosatellite repeat array at 4q35, which relaxes repressive chromatin at the locus; pathogenicity also requires a permissive 4qA haplotype that supplies a polyadenylation signal stabilising the DUX4 transcript.
• FSHD type 2 produces the same downstream DUX4 de-repression through loss-of-function variants in chromatin modifiers, most commonly SMCHD1, giving D4Z4 hypomethylation without repeat contraction.
• Because the disease-causing lesion is genetic and epigenetic rather than immunological, PBMCs are valuable primarily as a source of patient genomic DNA for D4Z4 repeat sizing, haplotype determination, and methylation analysis – the same lesion is present in blood cells even though DUX4 pathology is muscle-restricted.
• PBMCs are a practical starting material for reprogramming to induced pluripotent stem cells and subsequent myogenic differentiation, enabling patient-specific muscle cell models for DUX4-targeted therapeutic screening.
• PBMCs also support flow cytometric characterisation and transcriptomic profiling of the circulating immune compartment, which is relevant to the secondary inflammatory infiltrate described in FSHD muscle and to safety assessment in gene-directed therapy programmes.

Donor Stratification Available

• FSHD type 1 (D4Z4 repeat contraction) versus FSHD type 2 (SMCHD1-associated)
• D4Z4 repeat size and 4q haplotype where genotyping is documented
• Clinical severity and distribution of weakness, including documented severity scores where available
• Age at symptom onset, including infantile-onset presentations
• Ambulatory status and use of assistive devices or ventilatory support
• Sex, family history, and availability of affected or unaffected family members
• Matched healthy controls available

Product Features

• Research Use Only (RUO), cryopreserved PBMCs
• Clinically confirmed FSHD donors
• Processed within 24 hours of collection
• Stored using CryoStor® CS10 freezing media
• Standard and custom aliquot sizes available
• IRB-approved protocols and electronic informed consent

De-identified Donor Data

• Verified FSHD diagnosis
• Donor demographics: age, sex assigned at birth, race/ethnicity
• Self-reported allergies and infectious disease history
• Genetic confirmation and FSHD subtype where documented
• Additional FSHD-specific data available upon request

Applications

• Genomic DNA extraction for D4Z4 repeat sizing, 4q haplotyping, and SMCHD1 sequencing
• DNA methylation analysis of the D4Z4 array to distinguish FSHD1 from FSHD2
• Reprogramming to induced pluripotent stem cells and myogenic differentiation for patient-specific muscle models
• Transcriptomic and single-cell RNA sequencing of patient-derived cells
• Drug screening and mechanism-of-action studies on donor-derived cell lines
• Immunophenotyping of circulating leukocyte subsets by flow cytometry
• Genotype-phenotype correlation studies and biobanking for longitudinal cohorts
• Assay development and qualification for genetic testing and clinical trial screening

Other Facioscapulohumeral Muscular Dystrophy Specimen Types

• Facioscapulohumeral Muscular Dystrophy Plasma
• Facioscapulohumeral Muscular Dystrophy Serum
• Facioscapulohumeral 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

Facioscapulohumeral Muscular Dystrophy PBMC samples are shipped on dry ice and available in custom aliquots. For pricing, international orders, or regulatory requirements, please contact learnmore@sanguinebio.com to confirm documentation and compliance needs. Browse all human PBMCs or request a custom disease-state collection.