GM15912
LCL from B-Lymphocyte
Description:
EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1
MONOZYGOTIC TWIN PAIRS
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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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Family Member
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2
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Relation to Proband
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twin sister
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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; birth weight 4 pounds 12 ounces at 39 weeks gestation; first seizure occured at 18 months; seizures rather difficult to control in the past; video EEG showed multiple spells of blanking out and occasional head drop, ictal events showed a 2 to 3 Hz slowing diffusely and this was sometimes associated with polyspike discharge; clinical and EEG findings suggestive of atypical absence epilepsy; strabismus; developmental delay (developmentally at about 3 1/2 - 4 years old at a chronological age of 6 and slightly behind twin sister); first of twin sisters to develop seizures; slightly hypotonic; no family history of seizures other than the subject's twin sister; affected monozygotic twin sister is GM15911 |
| Split Ratio |
1:3 |
| 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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