Scientific resources for researchers investigating X-linked Dystonia-Parkinsonism.

Retreiving samples from liquid nitrogen storage

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 Mass General Brigham Research Bank at MGH by contacting Amy Alessi, PhD.


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

DNA

DNA from dystonia patients including XDP (DYT3) are available at Coriell .


Dr. Ellen Penney and research technician Micaela Murcar sectioning postmortem brain tissue.
Dr. Ellen Penney and research technician Micaela Murcar sectioning postmortem brain tissue.

Postmortem Brain Tissue

Samples from a limited number of postmortem XDP brains are available for research. Control tissue is not currently available. Brain collection efforts in the Philippines are described here.

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 Program Director Amy Alessi, PhD for additional information.


Mouse models

Conditional TAF1 floxed allele mice are available via The Jackson Laboratory.


Novel anti-C-TAF1 rabbit monoclonal antibodies

Monoclonal antibodies are available by request from CCXDP. Please contact Amy Alessi, PhD to request.


For questions, please contact Program Director Amy Alessi, PhD.

To inquire about genetic testing, enrolling in research studies or access to de-identified clinical data 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


Resources for Patients and Physicians