Description:
SHORT/BRANCHED-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY; SBCADD
ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB
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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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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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Race
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Asian
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Ethnicity
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HMONG
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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 |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
ACADSB |
| Chromosomal Location |
10q25-q26 |
| Allelic Variant 1 |
M356V; ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN |
| Identified Mutation |
MET356VAL |
| |
| Gene |
ACADSB |
| Chromosomal Location |
10q25-q26 |
| Allelic Variant 2 |
M356V; ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN |
| Identified Mutation |
MET356VAL |
| Remarks |
Clinically affected; picked up via newborn screening; abnormal acylcarnitine profile in blood; cell line CRIM negative for SBCAD protein; donor subject is homozygous for an A>G transition at nucleotide 1165 of the ACADSB gene [1165A>G] resulting in a substitution of valine for methionine at codon 356 in the mature SBCAD protein [Met356Val (M356V)]. |
| Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J, Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics112(1 Pt 1):74-8 2003 |
| PubMed ID: 12837870 |
| Passage Frozen |
10 |
| Split Ratio |
1:3 |
| 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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