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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Venezuelan Huntington Disease
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| Class |
Disorders with Trinucleotide Expansions |
|
Cell Type
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Fibroblast
|
|
Transformant
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Untransformed
|
|
Race
|
White
|
|
Family Member
|
83
|
|
Relation to Proband
|
maternal cousin
|
|
Confirmation
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Clinical summary/Case history
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|
ISCN
|
46,XY.arr 3p25.2(12651912-12806123)x3,6(q13q16.175176185-98959605)x2 hmz,7p21.3(7313484-13335041)x2 hmz,15q11.1(20216942-22681064)x1,17q22q24.2(53819086-65020731)x2 hmz
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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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