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HDL2 iPSCs cell line

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

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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.


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