GM16866
Fibroblast from Skin, Arm
Description:
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A
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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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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Arm
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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 |
14 |
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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 |
Clinically affected; complementation group 8; culture set up from skin biopsy taken from the inner forearm; transverse palmar creases; large anterior fontanelle; hypotonia; failure to thrive; developmental delay; jaundice; broad nasal bridge; bilateral hypergyration; asymmetric cranium with plagiocephaly; small ears; supraorbital ridge hypoplasia; narrow palpebral fissures; 5th nail hypoplasia; bilateral nail hypoplasia on big toe; renal cortical cysts; hepatic fibrosis and bile stasis; patent ductus arteriosus; affected older sister; deficient peroxisomal plasmalogen synthesis enzymes; elevated very long chain fatty acids. No detectable level of PEX26 mRNA. |
| Pierre M.Jean Beltran, Katelyn C.Cook, Yutaka Hashimoto, Cyril Galitzine, Laura A. Murray, Olga Vitek, Ileana M. Cristea, Infection-Induced Peroxisome Biogenesis Is a Metabolic Strategy for Herpesvirus Replication Cell Host and Microbe24:526-541 2018 |
| PubMed ID: 30269970 |
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| Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y, Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet73(2):233-46 2003 |
| PubMed ID: 12851857 |
| Passage Frozen |
14 |
| 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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