NTCC® NA00649 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA00649

Name：NTCC® NA00649 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA00649
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: 9 MO
Gender性别: Male
Description描述: MAPLE SYRUP URINE DISEASE (MSUD), TYPE IA | BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA
Remarks: Elevated urine leu, ileu, and val; delayed psychomotor develop; abnormal EEG; deficient BCKD (BCKAD) complex activity; posititve for cross-reactive material for BCKD (BCKAD) complex subunits E1A, E2, and E3; E1A (BCKDE1A or BCKDHA) gene shows 8-bp deletion in exon 7/Y438N (formerly designated Y393N) mutations
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: 8-BP DEL, NT887-894, FS255TER 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