GM23742
LCL from B-Lymphocyte
Description:
AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
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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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More than one race
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Ethnicity
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AMERICAN INDIAN/CAUCASIAN
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Country of Origin
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USA
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Family History
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N
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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 LINE assay |
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| Remarks |
Clinically affected; onset of symptoms at age 54 years; difficulty swallowing; dysphonia; atrophy/weakness of tongue and facial muscles; fasciculations involving the extremities; bilateral brisk reflexes; absence of any sensory findings; shortness of breath; EMG nerve conduction studies revealed: reduced sensory nerve action potential amplitudes of bilateral median nerves with prolonged latencies, markedly prolonged distal motor latencies of bilateral median nerves with reduced to borderline normal CMAP amplitudes; conduction velocity proximally is borderline normal to slightly slowed, absent right median and ulnar F-responses while right posterior tibial F-response latency is significantly prolonged, left median F response latency is very much prolonged; needle electromyography results revealed fasciculation potentials in the majority of muscles sampled, increased proportion of high amplitude, long duration, polyphasic units with reduced recruitment pattern, APB muscles reveal disproportionately more denervation; possible coexisting neuropathy, polyradiculopathy in addition to ALS considered due to presence of abnormal sensory nerve conduction velocities and more severely reduced velocities and conduction velocities; subject uses communication/learning device and speech, occupational and physical therapy; positive family history: mother, aunt and first cousin were also affected (not in repository). |
| 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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