Description:
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A
PEROXISOME BIOGENESIS FACTOR 26; PEX26
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| PDL at Freeze |
6.78 |
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 1 |
608666.0003; ZELLWEGER SYNDROME |
| Identified Mutation |
1-BP INS, 35C; In a patient with Zellweger syndrome (214100), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified a homozygous 1-bp insertion, 35insC, in the PEX26 gene, resulting in a frameshift introducing a 102-amino acid sequence distinct from normal PEX26. |
| |
| Gene |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 2 |
608666.0003; ZELLWEGER SYNDROME |
| Identified Mutation |
1-BP INS, 35C; In a patient with Zellweger syndrome (214100), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified a homozygous 1-bp insertion, 35insC, in the PEX26 gene, resulting in a frameshift introducing a 102-amino acid sequence distinct from normal PEX26. |
| Remarks |
Complementation group 8; characteristic facies; severe hypotonia; diagnosis based upon absent hepatic peroxisomes, abnormal bile acid pattern, & pipecolic acidemia; similarly affected sib; fibroblasts contain peroxisomal "ghosts"; see GM07370 Lymph; donor subject is homozygous for a 1 bp insertion (35insC) in the PEX26 gene, resulting in a frameshift introducing a 102-amino acid sequence distinct from normal PEX26 |
| 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 |
| |
| 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 |
| |
| Santos MJ, Imanaka T, Shio H, Lazarow PB, Peroxisomal integral membrane proteins in control and Zellweger fibroblasts. J Biol Chem263:10502-9 1988 |
| PubMed ID: 3292528 |
| Passage Frozen |
10 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
3% |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Supplement |
- |
|
|