GM09297
LCL from B-Lymphocyte
Description:
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
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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 |
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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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Ethnicity
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ASHKENAZI
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Family Member
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2
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Relation to Proband
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brother
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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; nocturnal enuresis; azotemia; BUN 46 (elevated); creatinine 1.0 (normal); evidence of renal problems; profound postural hypotension but becoming less frequent; tongue thrusting; vomiting crises have strong psychological component; alacrima; no strabismus; corneal reflexes are present; color blindness, red-green deficiency; mild Horner's syndrome due to blow-out fracture of left orbit; esophagitis; loss in weight; sexual immaturity; slight decrease of vibration sense in all extremities; absent deep tendon reflexes; 50% error in left arm for determination of sharp vs. dull; unable to discriminate between hot and cold; can not smell with left nostril; moderate decrease in pain sensation; abnormal EEG; proteinuria and hematuria; right thoracic scoliosis; kyphosis; spina bifida occulta; no cyanosis; affected brother is GM09296; unaffected siblings are GM09298, GM09302; mother is GM09764. |
| Split Ratio |
1:2 |
| 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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