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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Transformant
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Untransformed
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization after cell line submission to CCR
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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 |
5.46 |
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
High proportion of fatty acids with a chain length of 26 found in fibroblasts; autopsy pathological findings in both the adrenal and central nervous system were those of ALD |
| 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 |
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| 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 |
| |
| Wilson R, Tocher DR, Sargent JR, Effects of exogenous monounsaturated fatty acids on fatty acid metabolism in cultured skin fibroblasts from adrenoleukodystrophy patients. J Neurol Sci109:207-14 1992 |
| PubMed ID: 1634904 |
| Passage Frozen |
7 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
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