Name：NTCC? NA17472 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17472
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 13 YR
Gender性別: Male
Description描述: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Remarks: Clinically affected; benign heart murmur; reactive airway disease; recurrent migraine headaches usually accompanied by a visual aura; noninflammatory myopathy; severe leg and calf pain after infections and exertion; acute episode of severe muscle cramping, contractions and pain associated with elevated CPK levels in serum occurred at age 8 years; at the time of this acute episode the total carnitine was 22.5 (normal 33.9-69) and free carnitine was 18.7 (normal 30.2-56.8); recurrent rhabdomyolysis; light microscopy performed on muscle biopsy was normal; 50% of normal carnitine palmitoyl transferase II activity; normal small-chain Acyl-CoA dehydrogenase activity in fibroblasts and muscle; fibroblast oxidation studies showed marked elevation of butylcarnitine; elevation of butyryl carnitine after MCT load consistent with a partial defect in short-chain acyl-Co-A dehydrogenase deficiency; ethylmalonic acid level was normal in urine; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 625 of the ACADS gene [625G>A] resulting in a substitution of serine for glycine at codon 185 [Gly185Ser (G185S)] and a second allele has a C>T transition at nucleotide 511 of the ACADS gene [511C>T] resulting in a substitution of tryptophan for arginine at codon 147 [Arg147Trp (R147W)].
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ACADS
Disease疾病類型:
Mutations突變: ARG147TRP GLY185SER
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
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