NTCC® NA01366 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01366

Name：NTCC® NA01366 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01366
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: 7 YR
Gender性别: Female
Description描述: MAPLE SYRUP URINE DISEASE (MSUD), TYPE II | DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; DBT
Remarks: See GM01364 Fibro; HLA type A2(A9),B8, B12; 1 affected brother expired at age 14 days; deficient BCKAD activity; classical symptoms; bilateral optic atrophy and mental retardation; on diet therapy; absent E2 subunit; donor subject is homozygous for a G>T transversion in exon 6 of the DBT (E2) gene producing a premature stop codon at glu-163 [Glu163Ter (E163X)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: DBT
Disease疾病类型:
Mutations突变: GLU163TER
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