GM14951
LCL from B-Lymphocyte
Description:
EPILEPSY, PARTIAL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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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
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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-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; intractable epilepsy; major and mixed seizures; seizures occur almost daily; EEG performed at age 4-5 due to family history of epilepsy and this was abnormal and antiepileptic medication was begun; first overt seizure (tonic-clonic) occured at age 8; seizure activity increased and switched to complex partial seizures by age 16; neurological exam revealed impaired abstraction, poor recent memory, impaired graphesthesia, and poor rapid alternating movements bilaterally; EEG at age 24 showed an irregular background with multifocal areas of slowing as well as multiple areas of sharp and spike activity, including both temporals, as well as the left and right central parietal regions; MRI about age 22 showed mild ventriculomegaly and mild atrophy of the cerebellum; computed axial tomography scan report from mid 1970's showed what was felt to be mild cerebral dysgenesis; 2 affected sisters and 1 affected half-sister |
| Split Ratio |
1:5 |
| 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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