Name：NTCC? NA09787 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09787
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 3 YR
Gender性別: Female
Description描述: TAY-SACHS DISEASE; TSD | HEXOSAMINIDASE A; HEXA | ASPARTOACYLASE; ASPA
Remarks: Clinically affected; modified & slower onset than typical Tay-Sachs; absent hexosaminidase A activity as judged by MUGS assay; 46,XX in peripheral blood lymphocytes; donor subject is heterozygous for a G>A splice site mutation in intron 9 of the HEXA gene: c.1073+1 G>A (IVS9+1 G>A); parents (not in repository) carry 2 different mutations; negative for familial dysautonomia (FD) and Canavan diseases.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: HEXA
Disease疾病類型:
Mutations突變: c.1073+1 G>A (IVS9+1 G>A)
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質(zhì)粒載體菌株細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