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 |
5.3 |
| Passage Frozen |
9 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Adrenoleukodystrophy; mild neurological impairment, not clearly progressive; negative family history; 4 normal maternal uncles; content of hexacosanoic acid (26:0) and ratio of 26:0 to 22:0 fatty acids was similar to control fibroblasts |
| 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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| Kawamura N, Moser AB, Moser HW, Ogino T, Suzuki K, Schaumburg H, Milunsky A, Murphy J, Kishimoto Y, High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients. Biochem Biophys Res Commun82:114-20 1978 |
| PubMed ID: 666828 |
| Passage Frozen |
9 |
| 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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