NTCC® NA17475 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA17475

Name：NTCC® NA17475 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17475
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: 10 DA
Gender性别: Female
Description描述: ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF | ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN; ACADVL
Remarks: Clinically affected with severe cardiac form of VLCAD; cardiomyopathy and hypoglycemia in infancy; both parents are heterozygous for the mutation and not known to be consanguineous; donor subject is homozygous for an A>G transition at nucleotide 364 of the ACADVL gene resulting in an asparagine to aspartic acid change at codon 122 in the precursor protein [Asn122Asp (N122D)]; no other mutations were identified by amplification of all exons including intron/exon boundaries with subsequent sscp analysis
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ACADVL
Disease疾病类型:
Mutations突变: 364A>G
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