NA16513
DNA from Fibroblast
Description:
ZELLWEGER SYNDROME; ZS
PEROXISOME BIOGENESIS FACTOR 1; PEX1
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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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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DNA from Fibroblast
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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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Molecular characterization before cell line submission to CCR
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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 |
12 |
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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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| 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 |
PEX1 |
| Chromosomal Location |
7q21-q22 |
| Allelic Variant 1 |
602136.0004; ZELLWEGER SYNDROME; ZS |
| Identified Mutation |
1-BP INS, 2097T; Collins and Gould (Hum. Mutat. 14: 45-53, 1999) found a 1-bp insertion (2097insT) in exon 13 in 3 of 4 Zellweger syndrome (ZS; 214100) patients. Subsequent studies demonstrated that this mutation which leads to the loss of protein function was present in one-half of all complementation group 1 patients and correlated with the ZS phenotype. |
| Remarks |
Clinically affected; dolichocephaly; prominent high forehead; epicanthal folds; broad nasal bridge; anteverted nostrils; leukodystrophy; adrenal insufficiency; mildly deficient peroxisomal plasmalogen synthesis enzymes; catalase is mainly in the cytosol; deficient phytanic acid oxidation; significantly increased pipecolic acid in plasma; C26:0 and C26:1 are higher than normal; higher than normal ratio of C26/22; donor subject has one allele with a 1 bp insertion in exon 13 of the PEX1 gene (2097insT) between codons F699 and I700 that results in a frameshift and a premature termination codon 41 amino acids downstream of the insertion; the mutation on the second allele is as yet unknown |
| Miyamoto T, Hosoba K, Itabashi T, Iwane AH, Akutsu SN, Ochiai H, Saito Y, Yamamoto T, Matsuura S, Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome The EMBO journal:e103499 2019 |
| PubMed ID: 32368833 |
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| 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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| Collins CS, Gould SJ, Identification of a common PEX1 mutation in Zellweger syndrome. Hum Mutat14(1):45-53 1999 |
| PubMed ID: 10447258 |
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