NTCC® NA01099 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA01099

Name：NTCC® NA01099 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA01099
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: 8 MO
Gender性别: Female
Description描述: MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
Remarks: Mennonite; hypotonia; seizures; positive family history; homozygous for a T > A substitution in the E1 alpha subunit of BCKDH (BCKDHA) which changes tyrosine to asparagine at residue 394 of the polypeptide
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: BCKDHA
Disease疾病类型:
Mutations突变: TYR394ASN
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