Description:
NEURONAL INTRANUCLEAR INCLUSION DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Alternate IDs |
GM18073 [NEURONAL INTRANUCLEAR INCLUSION DISEASE] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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White
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Family Member
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2
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Relation to Proband
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mother
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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 |
| |
| Remarks |
Clinically normal; affected son is GM14717 and affected husband is GM14781 |
| Barnett JL, McDonnell WM, Appelman HD, Dobbins WO, Familial visceral neuropathy with neuronal intranuclear inclusions: diagnosis by rectal biopsy. Gastroenterology102:684-91 1992 |
| PubMed ID: 1310083 |
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