Description:
GILLES DE LA TOURETTE SYNDROME; GTS
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of the Nervous System |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
|
Cell Type
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B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR Analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.. |
|
Remarks |
Onset at age 5; severe obsessive-compulsive behavior; head jerking, body jerking, grunting vocal tics, and echolalia; treated with Parnate, Lithium, and Pimozide; a brother is also affected; son of GM09487 and 09488 |
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