C11143: Huntingtons Disease Associated iPSC linesNovelty:
Induced Pluripotent Stem Cell (iPSC) lines derived from patients with Huntingtons disease (HD).
Value Proposition:
HD is a devastating and fatal hereditary neurodegenerative disorder with no current cure. Although numerous cell culture and animal models exist, the preferential neuron degeneration that occurs with HD is still not understood. This invention is the establishment of iPSC lines derived from HD patient skin fibroblasts that can serve as an effective experimental system, accurately replicating the human HD model. Other advantages include:
• Provide accurate information about the pathophysiology of the disease
• Peripheral cells potentially be used to generate neurons that are difficult to acquire otherwise
• Serve as a disease model to identify biomarkers, screen for drugs and test drug efficacy
Technical Details:
Johns Hopkins researchers have generated two iPSC lines from skin fibroblasts taken from patients with the HD causative CAG mutation in the Huntington gene. These disease-specific iPSC lines were characterized by standard assays to assess their quality and pluripotency. These HD-iPSCs are also capable of producing phenotypically normal, functional neurons in vitro and were able to survive and differentiate into neurons in the adult mouse brain in vivo after transplantation.
Looking for Partners:
To develop & commercialize the technology as a disease model for Huntingtons disease.
Stage of Development:
Cell lines established
Data Availability:
Animal data validated
Publications/Associated Cases:
Mol Brain. 2012 May 21;5:17
