PBMC
Showing all 14 results
Cystic Fibrosis PBMC
Cystic Fibrosis PBMC samples are collected from clinically confirmed Cystic Fibrosis donors and cryopreserved for downstream immunology and cell-based assays. Ideal for studying inflammatory pathways, immune cell responses, and therapeutic development in Cystic Fibrosis.
Down Syndrome PBMC
Down Syndrome PBMC samples are isolated from donors with clinically and genetically confirmed Down syndrome (trisomy 21). Ideal for studying immune dysregulation, T cell function, and chronic inflammation associated with chromosomal imbalance.
Facioscapulohumeral Muscular Dystrophy PBMC
Facioscapulohumeral Muscular Dystrophy PBMC samples are isolated from donors with genetically confirmed facioscapulohumeral muscular dystrophy (FSHD). Ideal for investigating immune involvement in muscle degeneration, inflammation-related pathways, and potential therapeutic targets in dystrophic muscle disease.
Friedreich’s Ataxia PBMC
Friedreich’s Ataxia PBMC samples are isolated from donors with genetically confirmed Friedreich’s ataxia. Ideal for studying mitochondrial dysfunction, oxidative stress responses, and immune involvement in neurodegenerative disease.
Gaucher’s Disease PBMC
Gaucher’s Disease PBMC samples are isolated from donors with genetically confirmed Gaucher’s disease. Ideal for studying lysosomal storage dysfunction, macrophage activation, and immune alterations associated with glucocerebrosidase deficiency.
Huntington’s Disease PBMC
Huntington’s Disease PBMC samples are collected from clinically confirmed Huntington’s Disease donors and cryopreserved. Ideal for studying immune dysregulation, gene expression changes, and ceullular stress associated with Huntington’s Disease.
Mucopolysaccharidosis PBMC
Mucopolysaccharidosis PBMC samples are isolated from donors with clinically and genetically confirmed Mucopolysaccharidosis (MPS). Ideal for investigating lysosomal storage dysfunction, immune activation, and inflammation associated with glycosaminoglycan (GAG) accumulation.
Myotonic Dystrophy PBMC
Myotonic Dystrophy PBMC samples are isolated from donors with genetically confirmed Myotonic Dystrophy (DM). Ideal for studying RNA splicing abnormalities, immune dysregulation, and multisystemic involvement in this progressive neuromuscular disorder.
PFIC PBMC
PFIC PBMC samples are isolated from donors with clinically and genetically confirmed Progressive Familial Intrahepatic Cholestasis (PFIC). Ideal for studying immune responses, hepatocellular transport defects, and inflammatory pathways contributing to cholestasis in PFIC.
Pompe Disease PBMC
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.
Sickle Cell Disease PBMC
Sickle Cell Disease PBMC samples are collected from clinically confirmed sickle cell disease donors and cryopreserved. These PBMCs are ideal for studying immune dysregulation, inflammation, and investigating potential therapeutic interventions.
Sickle Cell Trait PBMC
Sickle Cell Trait PBMC samples are collected from clinically confirmed sickle cell trait (HbAS) donors and cryopreserved. These PBMCs are ideal for assessing cell function, inflammatory responses, and gene expression.
Spinal Muscular Atrophy PBMC
Spinal Muscular Atrophy PBMC samples are isolated from donors with genetically confirmed Spinal Muscular Atrophy (SMA). Ideal for studying immune system involvement, neuromuscular inflammation, and SMN-related cellular dysfunction in SMA.
Stargardt Disease PBMC
Stargardt Disease PBMC samples are isolated from donors with genetically confirmed Stargardt Disease (STGD). Ideal for investigating immune cell involvement, inflammation, and retinal degeneration pathways in STGD.