Scientific resources for researchers investigating X-linked Dystonia Parkinsonism.

Induced Pluripotent Stem (iPSCs)

A collection iPSCs including affected men and women, unaffected controls, and carrier females is available at Wicell, Inc.


Lymphoblasts

Lymphoblasts from dystonia patients including XDP (DYT3) and controls may be requested from the Dystonia Partners Research Bank at MGH by contacting Trisha Multhaupt-Buell, M.S., CGC


DNA

DNA from dystonia patients including XDP (DYT3) are available at Coriell or from the Dystonia Partners Research Bank at MGH by contacting Trisha Multhaupt-Buell, M.S., CGC.


Fibroblasts

An extensive collection of fibroblasts from dystonia patients, including XDP (DYT3), were recently deposited at RUCDR Infinite Biologicals and will come online on a rolling basis. Fibroblasts may also be requested from the Dystonia Partners Research Bank at MGH by contacting Trisha Multhaupt-Buell, M.S., CGC.

Please note that fibroblasts are a limited resource. Availability will depend on how often lines are requested.


Postmortem Brain Tissue

Samples from a limited number of postmortem XDP brains are available for research. Control tissue is not currently available.

Please note that due to the precious nature of this resource, a supplementary application and review by the XDP Brain Bank Tissue Committee is required before tissue distribution. Please contact Science Officer, Amy Alessi, PhD for additional information.


Antibodies

Novel anti-C-TAF1 rabbit monoclonal antibody are available by request by contacting Amy Alessi, PhD.


De-identified clinical data

Please contact Clinical Program Research Manager, Trisha Multhaupt-Buell, M.S., CGC for additional information.


Resources for Patients and Physicians

To inquire about Genetic Testing or enrolling in research studies please contact

Trisha J. Multhaupt-Buell, MS, CGC
Genetic Counselor, Research Counselor
Massachusetts General Hospital, Department of Neurology
Mass General Collaborative Center for XDP
110 6th St., Room 213C
Charlestown MA 02129-4522
T: 617-726-5470
F: 617-643-5277
DystoniaResearch@partners.org