GM14044
LCL from B-Lymphocyte
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 |
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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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LCL from B-Lymphocyte
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Relation to Proband
|
proband
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Confirmation
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Molecular characterization - other
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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Onset at age 2.5 yr with rigidity, dementia, and seizures; at age 16, he is attentive but essentially mute with little spontaneous movement, marked scoliosis, and joint contracts; mother died of HD at age 31; HD alleles are 19 and 750 CAG repeats. Earlier |
| Ruiz Buendía GA, Leleu M, Marzetta F, Vanzan L, Tan JY, Ythier V, Randall EL, Marques AC, Baubec T, Murr R, Xenarios I, Dion V, Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion Science advances6:eaaz4012 2019 |
| PubMed ID: 32656337 |
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| Malbec R, Chami B, Aeschbach L, Ruiz Buendía GA, Socol M, Joseph P, Leïchlé T, Trofimenko E, Bancaud A, Dion V, µLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity in less than 5?minutes Scientific reports9:23 2018 |
| PubMed ID: 30631115 |
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| Nance MA, Mathias-Hagen V, Breningstall G, Wick MJ, McGlennen RC, Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease. Neurology52(2):392-4 1999 |
| PubMed ID: 9932964 |
| |
| Parker, Very high CAG repeat number in Huntington disease. Am J Hum Genet57S:A248 (1995):392-4 1995 |
| PubMed ID: 9932964 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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