Facioscapulohumeral Muscular Dystrophy PBMC
Facioscapulohumeral Muscular Dystrophy PBMC samples from donors with confirmed FSHD, a monogenic disorder caused by DUX4 de-repression following D4Z4 repeat contraction (FSHD1) or SMCHD1 loss of function (FSHD2). Ideal for D4Z4 repeat sizing and methylation analysis, iPSC reprogramming and myogenic differentiation, transcriptomics, and drug screening on donor-derived lines. Matched healthy controls available.
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.
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.
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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.