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GM07371 Fibroblast

Description:

PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A
PEROXISOME BIOGENESIS FACTOR 26; PEX26

Affected:

Yes

Sex:

Female

Age:

3 WK (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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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 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

Characterizations

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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.

Phenotypic Data

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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

Publications

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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
 
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

External Links

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dbSNP dbSNP ID: 20985
Gene Cards PEX26
Gene Ontology GO:0005777 peroxisome
GO:0015031 protein transport
GO:0016021 integral to membrane
NCBI Gene Gene ID:55670
NCBI GTR 608666 PEROXISOME BIOGENESIS FACTOR 26; PEX26
614872 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A
OMIM 608666 PEROXISOME BIOGENESIS FACTOR 26; PEX26
614872 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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