Name：NTCC? NA17547 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17547
Size/Quantity數量: 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: 14 YR
Gender性別: Male
Description描述: BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK
Remarks: Clinically affected; at age 4 patient had recurrent pyogenic infections; IgG<50mg/dl; IgM<30mg/dl; IgA<20mg/dl; B lymphocytes express IgD and IgM; the cells synthesize small amounts of intracellular IgD, but there is no evidence of secretion; maternal uncle also has agammaglobulinemia; mother is GM17566; donor subject has T-to-C transition at nucleotide 1648 in exon 15 of the BTK gene (1648T>C) resulting in a substitution of arginine for cysteine at codon 506 in the middle of the kinase domain [Cys506Arg (C506R)]
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: BTK
Disease疾病類型:
Mutations突變: CYS506ARG
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