Name：NTCC? NA17471 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17471
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: 9 YR
Gender性別: Male
Description描述: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Remarks: Clinically affected; hypotonia; hypoglycemia; developmental delay; ethylmalonic aciduria; EMA elevated in urine; elevated butyryl and carnitine; deficient small-chain Acyl-CoA dehydrogenase by electron-transferring flavoprotein reduction assay; undetectable small-chain Acyl-CoA dehydrogenase activity in fibroblasts (undetectable represents <10% of control SCAD activity); donor subject is homozygous for 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)]; exon counting and quantitative PCR have not been done to confirm homozygosity
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
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
Email：Biovector@163.com
http://www.biovector.net