Description:
NEUROFIBROMATOSIS, TYPE II; NF2
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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 |
| Alternate IDs |
GM17232 [NEUROFIBROMATOSIS, TYPE II; NF2] |
| 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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3
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Relation to Proband
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son
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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 unaffected; father & sister are affected |
| Jacoby LB, MacCollin M, Parry DM, Kluwe L, Lynch J, Jones D, Gusella JF, Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis. Neurogenetics2(2):101-8 1999 |
| PubMed ID: 10369886 |
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| Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella JF, Frequency and distribution of NF2 mutations in schwannomas. Genes Chromosomes Cancer17(1):45-55 1996 |
| PubMed ID: 8889506 |
| dbSNP |
dbSNP ID: 11248 |
| NCBI GTR |
101000 NEUROFIBROMATOSIS, TYPE II; NF2 |
| OMIM |
101000 NEUROFIBROMATOSIS, TYPE II; NF2 |
| Omim Description |
ACOUSTIC NEURINOMA, BILATERAL; ACNNEUROFIBROMIN 2, INCLUDED |
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ACOUSTIC SCHWANNOMAS, BILATERAL |
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BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF |
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MERLIN, INCLUDED |
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NEUROFIBROMATOSIS, CENTRAL TYPE |
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NEUROFIBROMATOSIS, TYPE II; NF2 |
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SCHWANNOMIN, INCLUDED; SCH, INCLUDED |
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