Description:
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A
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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 |
16 |
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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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| Remarks |
Group 4; severe hypotonia; seizures; fibroblasts show impaired capacity to degrade VLCFA & phytanic acid, defective plasmalogen synthesis, & abnormal catalase distribution |
| Ye Q, Zhang Y, Cao Y, Wang X, Guo Y, Chen J, Horn J, Ponomareva LV, Chaiswing L, Shaaban KA, Wei Q, Anderson BD, St Clair DK, Zhu H, Leggas M, Thorson JS, She QB, Frenolicin B Targets Peroxiredoxin 1 and Glutaredoxin 3 to Trigger ROS/4E-BP1-Mediated Antitumor Effects Cell chemical biology: 2018 |
| PubMed ID: 30661989 |
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| Roscher AA, Hoefler S, Hoefler G, Paschke E, Paltauf F, Moser A, Moser H, Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients. Pediatr Res26:67-72 1989 |
| PubMed ID: 2475849 |
| Passage Frozen |
16 |
| 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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