Description:
RETT SYNDROME; RTT
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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
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|
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
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|
Common Name
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Human
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|
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 |
| |
| Remarks |
Clinically affected; abnormal EEG; gastroesophageal reflux; hyperventilation; loss of purposeful hand use; nonverbal; muscle rigidity; poor circulation in legs and feet; seizures; tremors; teeth grinding; father has narcolepsy; see GM16563 (keratinocytes) |
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