Description:
ANGELMAN SYNDROME; AS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
|
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Sample Source
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DNA from LCL
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Race
|
White
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Ethnicity
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Not Hispanic/Latino
|
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Country of Origin
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USA
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Family Member
|
2
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Family History
|
Y
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Relation to Proband
|
mother
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Confirmation
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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX.arr(1-22,X)x2
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Unaffected carrier of a 317C>A UBE3A mutaion; affected child is GM24206 |
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