GM17400
Fibroblast from Skin, Arm
Description:
PEROXISOME BIOGENESIS DISORDER 7B; PBD7B
RETINITIS PIGMENTOSA 1; RP1
PEROXISOME BIOGENESIS FACTOR 26; PEX26
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Lipid Metabolism |
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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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Family Member
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2
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Relation to Proband
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brother
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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 |
10 |
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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 |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 1 |
; PEROXISOME BIOGENESIS DISORDER 7B; PBD7B |
| Identified Mutation |
c.131T>C (p.Leu44Pro) |
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| Gene |
PEX26 |
| Chromosomal Location |
22q11.21 |
| Allelic Variant 2 |
608666.0001; PEROXISOME BIOGENESIS DISORDER 7B; PBD7B |
| Identified Mutation |
ARG98TRP; In a patient with neonatal adrenoleukodystrophy (NALD; 202370), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified a homozygous C-to-T transition at nucleotide 292 of the PEX26 gene, resulting in an arg98-to-trp (R98W) substitution. The mutation rendered PEX26 unstable and less able to participate in PEX6 (601498)-mediated interaction with PEX1 (602136). Transfection of wildtype PEX26 restored peroxisome biogenesis in fibroblasts from this patient. In a patient with infantile Refsum disease (266510), Matsumoto et al. [Am. J. Hum. Genet. 73: 233-246 (2003)] identified compound heterozygosity for 2 mutations in the PEX26 gene: R98W and a 1-bp insertion, 255insT (608666.0007), resulting in a frameshift introducing a distinct 28-amino acid sequence. Functional coexpression studies of the 2 mutations showed temperature-sensitive (30 degrees C) import of catalase and thiolase. |
| Remarks |
Clinically affected; skin biopsy taken from inner forearm; group 8; dolichocephaly; prominent forehead; retinitis pigmentosa; broad nasal bridge; high-arched palate; leukodystrophy; mental retardation; deficient phytanic acid oxidation; amounts of c26:0, c26:1, and the ratios of c24/c22 and c26/c22 are higher than normal; lower than normal c22:6n-3; both plasma and urinary pipecolate levels are significantly higher than normal; deficient peroxisomal plasmalogen synthesis enzymes; higher than normal very long chain fatty acids; affected sister is GM17399 |
| Furuki S, Tamura S, Matsumoto N, Miyata N, Moser A, Moser HW, Fujiki Y, Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex The Journal of biological chemistry281:1317-23 2005 |
| PubMed ID: 16257970 |
| Passage Frozen |
10 |
| 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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