Description:
REFSUM DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid 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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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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| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Elevated phytanic acid in blood, fat, other body fluids, and cultured skin fibroblasts; progressive retinitis pigmentosa and peripheral neuropathy; see GM03897 Lymphoid |
| Sandhir R, Khan M, Chahal A, Singh I, Localization of nervonic acid beta-oxidation in human and rodent peroxisomes: impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy. J Lipid Res39:2161-71 1998 |
| PubMed ID: 9799802 |
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| Rizzo WB, Dammann AL, Craft DA, Sjogren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol:nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest81:738-44 1988 |
| PubMed ID: 3343337 |
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| Friedman KJ, Shapiro SS, Changes in sterol and phospholipid fatty acid composition in Refsum's disease fibroblasts grown in the presence of phytol. Clin Physiol Biochem3:249-56 1985 |
| PubMed ID: 2414050 |
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| Dulaney JT, Williams M, Evans JE, Costello CE, Kolodny EH, Occurrence of novel branched-chain fatty acids in Refsum's disease. Biochim Biophys Acta529:1-12 1978 |
| PubMed ID: 76480 |
| Passage Frozen |
4 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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