Description:
ZELLWEGER SYNDROME; ZS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
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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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| Passage Frozen |
7 |
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| 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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| PEROXISOMAL ENZYMES |
Zoeller et al (J Biol Chem 264:21872-21878,1989) reported that this Zellweger cell line showed deficient peroxisomal dihydroxyacetonephosphate acyltransferase (DHAP-AT) and peroxisomal acyl-coenzyme A oxidation activities in whole cell homogenates. |
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| Remarks |
Clinically affected; increased C26:O and C26:1 long-chain fatty acids and C26:C22 fatty acid ratio in fibroblasts; fibroblasts show a defect in plasmalogen biosynthesis; fibroblasts contain peroxisomal "ghosts"; 46,XY |
| Brocard CB, Boucher KK, Jedeszko C, Kim PK, Walton PA, Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis Traffic (Copenhagen, Denmark)6:386-95 2005 |
| PubMed ID: 15813749 |
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| Ashmarina LI, Pshezhetsky AV, Branda SS, Isaya G, Mitchell GA, 3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria. J Lipid Res40:70-5 1999 |
| PubMed ID: 9869651 |
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| 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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| Paton BC, Sharp PC, Crane DI, Poulos A, Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects. J Clin Invest97:681-8 1996 |
| PubMed ID: 8609223 |
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| Wendland M, Subramani S, Presence of cytoplasmic factors functional in peroxisomal protein import implicates organelle-associated defects in several human peroxisomal disorders. J Clin Invest92:2462-8 1993 |
| PubMed ID: 7693762 |
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| Yajima S, Suzuki Y, Shimozawa N, Yamaguchi S, Orii T, Fujiki Y, Osumi T, Hashimoto T, Moser HW, Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet88:491-9 1992 |
| PubMed ID: 1372585 |
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| Zoeller RA, Allen LA, Santos MJ, Lazarow PB, Hashimoto T, Tartakoff AM, Raetz CR, Chinese hamster ovary cell mutants defective in peroxisome biogenesis. Comparison to Zellweger syndrome. J Biol Chem264:21872-8 1989 |
| PubMed ID: 2689450 |
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| Santos MJ, Imanaka T, Shio H, Lazarow PB, Peroxisomal integral membrane proteins in control and Zellweger fibroblasts. J Biol Chem263:10502-9 1988 |
| PubMed ID: 3292528 |
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| Singh H, Derwas N, Poulos A, Beta-oxidation of very-long-chain fatty acids and their coenzyme A derivatives by human skin fibroblasts. Arch Biochem Biophys254:526-33 1987 |
| PubMed ID: 2437859 |
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| Singh H, Derwas N, Poulos A, Very long chain fatty acid beta-oxidation by subcellular fractions of normal and Zellweger syndrome skin fibroblasts. Arch Biochem Biophys257:302-14 1987 |
| PubMed ID: 3662528 |
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| Webber KO, Datta NS, Hajra AK, Properties of the enzymes catalyzing the biosynthesis of lysophosphatidate and its ether analog in cultured fibroblasts from Zellweger syndrome patients and normal controls. Arch Biochem Biophys254:611-20 1987 |
| PubMed ID: 3646870 |
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| Sakai T, Antoku Y, Goto I, Plasmalogen deficiency in cultured skin fibroblasts from neonatal adrenoleukodystrophy. Exp Neurol94:149-54 1986 |
| PubMed ID: 3758277 |
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| Singh H, Poulos A, A comparative study of stearic and lignoceric acid oxidation by human skin fibroblasts. Arch Biochem Biophys250:171-9 1986 |
| PubMed ID: 3767370 |
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| Arias JA, Moser AB, Goldfischer SL, Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders. J Cell Biol100:1789-92 1985 |
| PubMed ID: 3988808 |
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| Roscher A, Molzer B, Bernheimer H, Stockler S, Mutz I, Paltauf F, The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection. Pediatr Res19:930-3 1985 |
| PubMed ID: 4047762 |
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| Datta NS, Wilson GN, Hajra AK, Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. N Engl J Med311:1080-3 1984 |
| PubMed ID: 6566965 |
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| Moser AE, Singh I, Brown FR 3d, Solish GI, Kelley RI, Benke PJ, Moser HW, The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. N Engl J Med310:1141-6 1984 |
| PubMed ID: 6709009 |
| Passage Frozen |
7 |
| Split Ratio |
1:4 |
| 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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