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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Family Member
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1
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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 |
5.12 |
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Elevated C26:C22 fatty acid in fibroblasts; adrenal insufficiency; progressive white matter disease; progressively deteriorating intellectual function; one 2nd and two 3rd maternal cousins have ALD; see GM04673B Lymphoid |
| Terluk MR, Tieu J, Sahasrabudhe SA, Moser A, Watkins PA, Raymond GV, Kartha RV, Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics19:1007-1017 2022 |
| PubMed ID: 35378685 |
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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 |
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| 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 |
10 |
| 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 |
- |
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