Technology Listings


Human Induced Pluripotent Stem Cells

Application

Human induced pluripotent stem cells useful for human stem cell biology, Lesch-Nyhan disease or DYT1 dystonia.

Technical Summary

Lesch-Nyhan syndrome (juvenile gout) is a rare, inherited disorder caused by deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease causes overproduction of uric acid often leading to gout and kidney problems. It also causes intellectual and neurological disability. Treatment is symptom-focused and may include use of allopurinol to control overproduction of uric acid as well as extracorporeal shock wave lithotripsy for kidney stones. No treatment for the neurological problems exists.

DYT1 dystonia is early onset and typically presents in childhood. It is caused by mutations in the TOR1A gene, which encodes torsinA. While there is no known cure, some patients respond to deep brain stimulation surgery.

Researchers have developed human induced pluripotent stem cells (hiPSCs) from normal, healthy volunteers, patients with Lesch-Nyhan disease or DYT1 dystonia. These cells can be used for studying human stem cell biology, Lesch-Nyhan disease or DYT1 dystonia.

Developmental Stage

Stem cells are available for license.

Patent Information
Tech ID: 17210
Published: 3/26/2018
Category
Research Tools

Contact
Justin Burns
Assistant Director, Licensing
Emory University
404-727-4968
justin.burns@emory.edu

Inventor(s)
Hyder Jinnah

Keywords
Cell Line
Genetic Disorders
Neuroscience/Pain