GM21865
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
|
4
|
Relation to Proband
|
nephew
|
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; diagnosed at age 8 years; has had over 30 tumors removed, most having caused nerve damage; it is assumed that NF caused him to lose his sight in the right eye; a scan showed numerous tumors throughout the body and an inoperable one in the brain; affected grandmother is GM21843 and affected maternal aunt is GM21844; asymptomatic mother is GM21845; see GM22279 Fibroblast |
Split Ratio |
1:2 |
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 |
- |
|
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