NTCC® NA07843 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA07843

Name：NTCC® NA07843 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA07843
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 MO
Gender性别: Female
Description描述: ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
Remarks: Affected; episodes of vomiting, diarrhea, lethargy, hypoglycemia, and dicarboxylicaciduria; low plasma carnitine levels; 10% of normal long-chain Acyl CoA dehydrogenase activity in leukocytes; subject has a mutation in the gene coding for the alpha-subunit of the mitochondrial trifunctional protein (1528G>C). *This sample was originally classified as LCAD
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: HADHA
Disease疾病类型:
Mutations突变: GLU510GLN
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