GM16523
Fibroblast from Skin, Arm
Description:
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
|
Biopsy Source
|
Arm
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Arm
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; biopsy was taken from the inner forearm; failure to thrive; large fontanelles; macrocephaly; flat facies; micrognathia; high forehead; posteriorly rotated ears; sensorineural deafness; hypertelorism; epicanthal folds; corneal clouding; redundant skin folds of neck; absent liver peroxisomes; hepatomegaly; renal cortical microcysts; stippled epiphyses; severe mental retardation; hypotonia; polymicrogyria; C24/22 and C26/22 ratios and level of C26:0 are increased; significantly increased plasma pipecolate levels; C16 and C18 plasmalogen levels are much lower than normal; deficient peroxisomal plasmalogen synthesis enzymes |
| Passage Frozen |
3 |
| Split Ratio |
1:6 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|