GM09305
LCL from B-Lymphocyte
Description:
NEUROFIBROMATOSIS, TYPE II; NF2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
A son, 2 brothers, 1 sister, & father are also 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 |
| |
| 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: 11247 |
| NCBI GTR |
101000 NEUROFIBROMATOSIS, TYPE II; NF2 |
| OMIM |
101000 NEUROFIBROMATOSIS, TYPE II; 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 |
| 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 |
- |
|
|