Description:
RETT SYNDROME; RTT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from LCL
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Race
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White
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
|
proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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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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|
| Remarks |
Subject is clinically affected with RETT syndrome. MECP2 mutation resulting in substitution of alanine for valine at codon 140 (A140V). |
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