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
GeT-RM Samples |
| 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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Relation to Proband
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proband
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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 |
Donor subject has CAG repeat sizes of 15 in allele 1 and 24 in allele 2 in the first exon of the HD gene; CAG repeat size was determined by testing in 10 independent laboratories with the mean repeat length calculated from 30 responses per allele; DNA sequence analysis using automated fluorescent sequencing was performed for each allele and results from unidirectional sequencing indicate CAG repeat sizes of 15 in allele 1 and 24 in allele 2. |
| De Luca A, Morella A, Consoli F, Fanelli S, Thibert JR, Statt S, Latham GJ, Squitieri F, A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene ( International journal of molecular sciences22: 2021 |
| PubMed ID: 33567536 |
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| Jama M, Millson A, Miller CE, Lyon E, Triplet repeat primed PCR simplifies testing for huntington disease The Journal of molecular diagnostics : JMD15:255-62 2012 |
| PubMed ID: 23414820 |
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| Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS, Development of genomic reference materials for Huntington disease genetic testing Genetics in medicine : official journal of the American College of Medical Genetics9:719-23 2007 |
| PubMed ID: 18073586 |
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