Description:
NEUROFIBROMATOSIS, TYPE II; NF2
NEUROFIBROMIN 2; NF2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| 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 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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Molecular characterization before cell line submission to CCR
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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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| Gene |
NF2 |
| Chromosomal Location |
22q12.2 |
| Allelic Variant 1 |
; NEUROFIBROMATOSIS, TYPE 2 |
| Identified Mutation |
NF2 GENE DELETION |
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| Gene |
NF2 |
| Chromosomal Location |
22q12.2 |
| Allelic Variant 2 |
; NEUROFIBROMATOSIS, TYPE 2 |
| Identified Mutation |
1026_1027delAG |
| Remarks |
Clinically affected; unilateral moderate hearing loss and unilateral vestibular schwannoma; asymptomatic spinal tumors and schwannomas (right thumb, left wrist, right palm); founder mosaic for NF2: analysis of donor subject's tumor tissue showed that one allele has a total NF2 gene deletion and a second allele has a 2 bp deletion at nucleotide 1026 (c.1026_1027delAG) |
| Gene Cards |
NF2 |
| Gene Ontology |
GO:0005198 structural molecule activity |
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GO:0005856 cytoskeleton |
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GO:0005886 plasma membrane |
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GO:0007605 perception of sound |
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GO:0008092 cytoskeletal protein binding |
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GO:0008285 negative regulation of cell proliferation |
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GO:0045786 negative regulation of cell cycle |
| NCBI Gene |
Gene ID:4771 |
| NCBI GTR |
101000 NEUROFIBROMATOSIS, TYPE II; NF2 |
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607379 NEUROFIBROMIN 2; NF2 |
| OMIM |
101000 NEUROFIBROMATOSIS, TYPE II; NF2 |
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607379 NEUROFIBROMIN 2; 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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