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 17 in allele 1 and 36 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 17 in allele 1 and 36 in allele 2; RhD positive, 2 copies. |
| 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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| Zhao M, Cheah FSH, Tan ASC, Lian M, Phang GP, Agarwal A, Chong SS, Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping Scientific reports9:16481 2019 |
| PubMed ID: 31712634 |
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| Höijer I1, Tsai YC2, Clark TA2, Kotturi P2, Dahl N1, Stattin EL1, Bondeson ML1, Feuk L1, Gyllensten U1, Ameur A, Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing Human Mutation9:16481 2018 |
| PubMed ID: 29932473 |
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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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