GM02152
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 |
GM18006 [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
|
2
|
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Relation to Proband
|
spouse
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Confirmation
|
Clinical summary/Case history
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Electrophoresis Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically normal widow of affected husband; proband not in Repository; see GM02153 Fibroblast |
| Rivolta C, McGee TL, Frio TR, Jensen RV, Berson EL, Dryja TP, Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations Human mutation27:644-53 2006 |
| PubMed ID: 16708387 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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