Description:
ADRENOLEUKODYSTROPHY; ALD
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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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Tissue Type
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Skin
|
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Transformant
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Untransformed
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Race
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White
|
|
Family Member
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1
|
|
Family History
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N
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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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|
| PDL at Freeze |
3.86 |
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; adrenomyeloneuropathy; adrenal insufficiency; hyperreflexia; stiff limbs; hand tremors; ataxic and spastic gait; spastic paraparesis; occasional nausea & vomiting; increased frequency of urination; normal thyroid function tests; elevated levels of C26 fatty acids in plasma & fibro (quantitated by capillary gas liquid chromatography); treatments include: cortisone and hydrocortisone; negative family history. |
| Lee DK, Long NP, Jung J, Kim TJ, Na E, Kang YP, Kwon SW, Jang J, Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy Biochemical and biophysical research communications: 2018 |
| PubMed ID: 30509496 |
| |
| Pahan K, Khan M, Singh I, Therapy for X-adrenoleukodystrophy: normalization of very long chain fatty acids and inhibition of induction of cytokines by cAMP. J Lipid Res39(5):1091-100 1998 |
| PubMed ID: 9610777 |
| Passage Frozen |
8 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|