NA17475
DNA from Fibroblast
Description:
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Relation to Proband
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proband
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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 |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 1 |
N122D; VLCAD DEFICIENCY |
| Identified Mutation |
364A>G |
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| Gene |
ACADVL |
| Chromosomal Location |
17p13.1 |
| Allelic Variant 2 |
N122D; VLCAD DEFICIENCY |
| Identified Mutation |
364A>G |
| Remarks |
Clinically affected with severe cardiac form of VLCAD; cardiomyopathy and hypoglycemia in infancy; both parents are heterozygous for the mutation and not known to be consanguineous; donor subject is homozygous for an A>G transition at nucleotide 364 of the ACADVL gene resulting in an asparagine to aspartic acid change at codon 122 in the precursor protein [Asn122Asp (N122D)]; no other mutations were identified by amplification of all exons including intron/exon boundaries with subsequent sscp analysis |
| Raimo S, Zura-Miller G, Fezelinia H, Spruce LA, Zakopoulos I, Mohsen AW, Vockley J, Ischiropoulos H, Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders Redox biology41:101923 2021 |
| PubMed ID: 33725513 |
| dbSNP |
dbSNP ID: 15271 |
| Gene Cards |
ACADVL |
| Gene Ontology |
GO:0004466 long-chain-acyl-CoA dehydrogenase activity |
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GO:0005739 mitochondrion |
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GO:0006118 electron transport |
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GO:0006631 fatty acid metabolism |
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GO:0006635 fatty acid beta-oxidation |
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GO:0015980 energy derivation by oxidation of organic compounds |
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GO:0016491 oxidoreductase activity |
| NCBI Gene |
Gene ID:37 |
| NCBI GTR |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| OMIM |
201475 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD |
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609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL |
| Omim Description |
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF |
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VLCAD DEFICIENCYACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, INCLUDED; ACADVL, INCLUDED |
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