Description:
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Steroid Metabolism |
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Cell Type
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Fibroblast
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|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
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Clinical summary/Case history
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|
Species
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Homo sapiens
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|
Common Name
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Human
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|
Remarks
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|
| Passage Frozen |
17 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Group 2; fibroblasts show impaired capacity to degrade VLCFA & phytanic acid, defective plasmalogen synthesis, & abnormal catalase distribution; optic nerve dysplasia; nystagmus; extreme hypotonia; virtually continuous seizures before death at 4 months of age |
| Roscher AA, Hoefler S, Hoefler G, Paschke E, Paltauf F, Moser A, Moser H, Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients. Pediatr Res26:67-72 1989 |
| PubMed ID: 2475849 |
| Passage Frozen |
17 |
| Split Ratio |
1:3 |
| 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 |
- |
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