NTCC® NA01655 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA01655

Name：NTCC® NA01655 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01655
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: 5 YR
Gender性别: Female
Description描述: MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
Remarks: See GM01654 Fibro; HLA type A1,A2,B13, Bw17(B23)(Bw40); Mennonite kindred; 2 sisters died of MSUD; deficient BCKD (BCKAD) activity in fibro and lympho; expired at age 5; deficient of BCKD (BCKAD) complex subunit E1B; homozygous for Y438N mutation (formerly designated Y393N) in the BCKDHA gene
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: BCKDHA
Disease疾病类型:
Mutations突变: TYR438ASN (FORMERLY TYR393ASN)
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