GM16521
Fibroblast from Skin, Arm
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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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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Race
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Hispanic/Latino
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Relation to Proband
|
proband
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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 |
5 |
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| 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 taken from the inner forearm; dolichocephaly; prominent high forehead; visual impairment; epicanthal folds; broad nasal bridge; anteverted nostrils; hearing loss; mental retardation; higher than normal very long chain fatty acids; increased plasma pipecolate; decreased C18 plasmalogen levels; deficient peroxisomal plasmalogen synthesis enzymes; amounts of C26:0 and C26:1 and the ratio of C26/22 are higher than normal |
| Passage Frozen |
5 |
| 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 |
- |
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