Description:
TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Race
|
Hispanic/Latino
|
|
Family Member
|
5
|
|
Family History
|
Y
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically unaffected carrier; normal hair; normal development; mild hypertension; father of 2 affected children: first is GM16646, second is GM16651 lymphoblast and GM16652 fibroblast; unnaffected child is GM16645; unaffected spouse is GM16647 lymphoblast and GM16648 fibroblast; see GM16649 lymphoblast of father |
| Passage Frozen |
2 |
| Split Ratio |
1:8 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|