GM19801
LCL from B-Lymphocyte
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 |
| Class |
Disorders of Uncertain Biochemical Etiology |
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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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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
NF2 |
| Chromosomal Location |
22q12.2 |
| Allelic Variant 1 |
607379.0007; NEUROFIBROMATOSIS, TYPE 2 |
| Identified Mutation |
PHE96DEL; In a study of 33 unrelated patients, MacCollin et al. (Am J Hum Genet 55:314-320, 1994) identified an in-frame deletion of 3 basepairs corresponding to codon 96 (CTT) in exon 3. The mutation causes a deletion of phenylalanine at position 96. |
| Remarks |
Clinically affected; bilateral vestibular schwannomas; donor subject has an in-frame deletion of 3 basepairs corresponding to codon 96 (CTT) in exon 3 of the NF2 gene causing a deletion of phenylalanine at position 96 [96 del Phe]. |
| MacCollin M, Ramesh V, Jacoby LB, Louis DN, Rubio MP, Pulaski K, Trofatter JA, Short MP, Bove C, Eldridge R, et al, Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet55(2):314-20 1994 |
| PubMed ID: 7913580 |
| 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 |
| 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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