Description:
HUNTINGTON DISEASE; HD
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
| 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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Family Member
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7
|
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Relation to Proband
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sister
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|
Confirmation
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Clinical summary/Case history
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ISCN
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47,XX,+12[13]/46,XX[37]
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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 Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 12: ANEUPLOID Trisomic Segment 12pter>12qter |
| Remarks |
46,XX/47,XX,+12: (74%/26%); proband for this family is GM02165 Fibroblast; see GM02167A Fibroblast |
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