GM16513
Fibroblast from Skin, Unspecified
Description:
ZELLWEGER SYNDROME; ZS
PEROXISOME BIOGENESIS FACTOR 1; PEX1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Biopsy Source
|
Unspecified
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
Fibroblast from Skin, Unspecified
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
12 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 |
| |
| 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 |
| |
| Collins CS, Gould SJ, Identification of a common PEX1 mutation in Zellweger syndrome. Hum Mutat14(1):45-53 1999 |
| PubMed ID: 10447258 |
| Passage Frozen |
12 |
| Split Ratio |
1:4 |
| 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 |
- |
|
|