NTCC® NA20266 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20266

Name：NTCC® NA20266 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20266
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:
Gender性别: Female
Description描述: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY | HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
Remarks: Clinically affected; pregnancy complicated by maternal HELLP syndrome; subject born at 37 weeks gestation; hypothermia; hypoglycemia; LCHAD = 8.5 (normal 57.3 +/- 14.9); donor subject is homozygous for a G>C transversion at nucleotide 1528 in exon 15 of the HADHA gene [1528G>C] resulting in a substitution of glutamine for glutamic acid at codon 510 [GLU510GLN (E510Q)].
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