Description:
ZELLWEGER SYNDROME; ZS
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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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ISCN
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46,XX,inv(9)(pter>p11::q21>p11::q21> qter)pat
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 9: INVERSION Breakpoint 9p11 inv(9)9p11 |
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Chromosome 9: INVERSION Breakpoint 9q21 inv(9)9q21 |
| Remarks |
Delayed develop; hepatomegaly; rotary nystagmus; large ant fontanel; protuberant eyes; questionable retinitis pigmentosa; passage 7 at CCR; 46,XX,inv(9) (pter>p11::q21>p11::q21>qter)pat; balanced; increased C26:C22 fatty acid ratio |
| Steinberg SJ, Fensom AH, Complementation analysis in patients with the clinical phenotype of a generalised peroxisomal disorder. J Med Genet33:295-9 1996 |
| PubMed ID: 8730284 |
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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 |
| Split Ratio |
1:3 |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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