HDL2 iPSCs cell line
Invented at Johns Hopkins University
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- References (1)
- Inventor Info
Info
| Catalogue Number | 156417 |
| Antigen/Gene or Protein Targets | Huntington's disease-like 2 (HDL2) |
| Disease Keywords | Huntington's Disease |
| Model | Stem Cells |
| Relevance |
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 Huntington’s 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, and the 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 |
References: 1 entry
Krause et al. 2015. Am J Med Genet B Neuropsychiatr Genet. 168(7):573-85. PMID: 26079385.
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References: 1 entry
Krause et al. 2015. Am J Med Genet B Neuropsychiatr Genet. 168(7):573-85. PMID: 26079385.
Add a reference
