Description:
NEUROFIBROMATOSIS, TYPE I; NF1
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases Hereditary Cancers |
Cell Type
|
Fibroblast
|
Tissue Type
|
Muscle/Connective tissue
|
Transformant
|
Untransformed
|
Race
|
White
|
Family Member
|
4
|
Family History
|
N
|
Relation to Proband
|
nephew
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
5.4 |
Passage Frozen |
3 |
|
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 GM21865 Lymphoid; culture grown from explants of capsule and connective tissue harvested at the time of neurofibroma removal surgically; see GM21865 Lymphoid |
Cumulative PDL at Freeze |
5.4 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Supplement |
- |
|
|