Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Race Asian
Ethnicity HMONG
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)].
Passage Frozen 10
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
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
Remark 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
No data is available
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
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA

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