Name：NTCC? NA01655 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA01655
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 5 YR
Gender性別: 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其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: BCKDHA
Disease疾病類型:
Mutations突變: TYR438ASN (FORMERLY TYR393ASN)
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net