GM02168
LCL from B-Lymphocyte
Description:
HUNTINGTON DISEASE; HD
APPARENTLY HEALTHY INDIVIDUAL
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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 |
| Alternate IDs |
GM18007 [HUNTINGTON DISEASE; HD] |
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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
|
LCL from B-Lymphocyte
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Race
|
White
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Family Member
|
4
|
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Relation to Proband
|
brother-in-law
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|
Confirmation
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Clinical summary/Case history
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|
Species
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Homo sapiens
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Common Name
|
Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Normal spouse of GM02166B; see GM02169 Fibroblast |
| 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 |
| |
| Leonard JC, Mullinger AM, Schmidt J, Cordell HJ, Johnson RT, Genome instability in ataxia telangiectasia (A-T) families: camptothecin-induced damage to replicating DNA discriminates between obligate A-T heterozygotes, A-T homozygotes and controls. Biosci Rep24(6):617-29 2004 |
| PubMed ID: 16158199 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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