GM21844
LCL from B-Lymphocyte
Description:
NEUROFIBROMATOSIS, TYPE I; NF1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Hereditary Cancers |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
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 LINE assay |
|
Remarks |
Clinically affected; metastatic neurofibromatosis; right temporal lobe tumor treated with lobectomy at age 30; right pelvic malignant peripheral nerve sheath tumor involving L4, L5 nerve root treated with resection at age 43; after complaining of neck and arm pain, subject was found to have multiple lytic metastases involving the pedicle and posterior elements of C2 on the right, the body of C4, and the body of T1 with pathologic compression fracture of T1 and the left transverse process of C7; subject assessed as not good candidate for surgery and was fitted with an Aspen collar and will receive home hospice care; affected mother is GM21843; asymptomatic sister with an affected child is GM21845 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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 |
- |
|
|