Description:
RETT SYNDROME; RTT
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
|
Cell Type
|
Keratinocyte
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
2.73 |
| Passage Frozen |
1 |
| |
| Remarks |
Clinically affected; abnormal EEG; gastrointestinal reflux; hyperventilation; loss of purposeful hand use; nonverbal; muscle rigidity; poor circulation in legs and feet; seizures; tremors; teeth grinding; father has narcolepsy; see GM16560 Lymphoid. Must ship frozen. |
| Cumulative PDL at Freeze |
2.73 |
| Passage Frozen |
1 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Defined keratinocyte serum-free medium |
| Serum |
none |
| Substrate |
Collagen IV-coated |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|