CELL LINES
Contributor Information
- Name Russell Margolis
- Institute Johns Hopkins University
Tool Details
- Tool name: HDL2 iPSCs cell line
- Tool type: Cell Lines
- Disease: Huntington's Disease
- Model: Stem Cells
- Description: This cell line was generated from induced pluripotent stem cells derived from fibroblast cell lines developed from patients with Huntington's disease-like 2. HDL2, discovered and genetically defined by the Margolis group, is a rare, autosomal dominant neurodegenerative disorder, clinically and neuropathologically very similar to HuntingtonÄË?Â?Âs disease. Like HD, the neuropathology of HDL2 is characterized by cortical and striatal neurodegeneration and the presence of neuronal protein aggregates. HDL2 is caused by a CTG/CAG expansion on chromosome 16q24. Normal alleles contain 6-28 triplets, while pathogenic repeats range from 40-59 triplets, remarkably similar to HD. In the CTG orientation, the repeat falls in the gene junctophilin-3 (JPH3). The development of HDL2 iPS cells as a tool for studying HDL2 provides several important opportunities including; an improved understanding of HDL2 itself,new insights into fundamental pathogenic processes relevant to other repeat expansion diseases, andthe opportunity to find pathogenic points of convergence between HD and HDL2 that will lead to a focus on therapeutic targets of most promise for both diseases.
- Research area: Neurobiology; Stem cell biology
- For Research Use Only
Target Details
- Target: Huntington's disease-like 2 (HDL2)
Application Details
Handling
- Format: Frozen
- Shipping conditions: Dry ice
Documentation
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