NTCC® NA17471 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA17471

Name：NTCC® NA17471 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17471
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 9 YR
Gender性别: 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其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ACADS
Disease疾病类型:
Mutations突变: ARG147TRP
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net