Description:
TUBEROUS SCLEROSIS 1; TSC1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Family History
|
Y
|
|
Relation to Proband
|
brother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Remarks |
Clinically affected; hypopigmented macules on left lower back, left lateral thigh, left medial thigh and right knee; calcifications in brain; myopia; retinal lesion; at age 15 there were no shagreen patches, ungual fibromas, adenoma sebaceum, cafe-au-laits, confetti hypopigmentation, or seizures; affected father is GM06148 and affected brother is GM06149. |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|