NA11269
DNA from Fibroblast
Description:
RETT SYNDROME; RTT
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases |
Class |
Disorders of the Nervous System |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
|
Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
|
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Passage Frozen |
4 |
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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; classical symptoms; normal lysosomal enzymes; 46,XX in PBL. |
Sung Jae Lee S, Wan M, Francke U, Spectrum of MECP2 mutations in Rett syndrome. Brain Dev23 Suppl 1:S138-43 2001 |
PubMed ID: 11738860 |
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