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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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 |
5.74 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Adrenomyeloneuropathy; adrenal insufficiency since age 11; unsteady gait since age 13; slt wkness & hyperreflexia since age 19; brother has mild spastic paraparesis; mother had progressive paraparesis; elevated level of C26 fatty acid in plasma & fibr |
| Come JH, Senter TJ, Clark MP, Court JJ, Gale-Day Z, Gu W, Krueger E, Liang J, Morris M, Nanthakumar S, O'Dowd H, Maltais F, Iyer G, Andreassi J, Boucher C, Considine T, Moody CS, Taylor W, Mohanty AK, Huang Y, Zuccola H, Coll J, Bonanno KC, Gagnon KJ, Gan L, Lu F, Gao H, Chakilam A, Engtrakul J, Song B, Crawford D, Doyle E, Kramer T, Vought B, Phillips J, Kemper R, Sanders M, Swett R, Furey B, Winquist R, Bunnage ME, Jackson KL, Charifson PS, Magavi SS, Discovery and Optimization of Pyrazole Amides as Inhibitors of ELOVL1 Journal of medicinal chemistry64:17753-17776 2021 |
| PubMed ID: 34748351 |
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| Singh J, Khan M, Singh I, Caffeic acid phenethyl ester induces adrenoleukodystrophy (Abcd2) gene in human X-ALD fibroblasts and inhibits the proinflammatory response in Abcd1/2 silenced mouse primary astrocytes Biochimica et biophysica acta64:17753-17776 2012 |
| PubMed ID: 23318275 |
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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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| Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y, Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol7:542-9 1980 |
| PubMed ID: 7436359 |
| Passage Frozen |
9 |
| Split Ratio |
1:4 |
| 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 |
| Substrate |
None specified |
| Supplement |
- |
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