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NA23163 DNA from LCL

Description:

NEUROFIBROMATOSIS, TYPE II; NF2
NEUROFIBROMIN 2; NF2

Affected:

Yes

Sex:

Female

Age:

28 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
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)

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene NF2
Chromosomal Location 22q12.2
Allelic Variant 1 ; NEUROFIBROMATOSIS, TYPE 2
Identified Mutation NF2 GENE DELETION
 
Gene NF2
Chromosomal Location 22q12.2
Allelic Variant 2 ; NEUROFIBROMATOSIS, TYPE 2
Identified Mutation 1026_1027delAG

Phenotypic Data

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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)

External Links

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Gene Cards NF2
Gene Ontology GO:0005198 structural molecule activity
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0007605 perception of sound
GO:0008092 cytoskeletal protein binding
GO:0008285 negative regulation of cell proliferation
GO:0045786 negative regulation of cell cycle
NCBI Gene Gene ID:4771
NCBI GTR 101000 NEUROFIBROMATOSIS, TYPE II; NF2
607379 NEUROFIBROMIN 2; NF2
OMIM 101000 NEUROFIBROMATOSIS, TYPE II; NF2
607379 NEUROFIBROMIN 2; NF2
Omim Description ACOUSTIC NEURINOMA, BILATERAL; ACNNEUROFIBROMIN 2, INCLUDED
  ACOUSTIC SCHWANNOMAS, BILATERAL
  BILATERAL ACOUSTIC NEUROFIBROMATOSIS; BANF
  MERLIN, INCLUDED
  NEUROFIBROMATOSIS, CENTRAL TYPE
  NEUROFIBROMATOSIS, TYPE II; NF2
  SCHWANNOMIN, INCLUDED; SCH, INCLUDED
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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Related Products
Same Subject
  • GM23163 - B-Lymphocyte
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