Name：NTCC? NA03043 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA03043
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(lái)源:
Age年齡: 16 YR
Gender性別: Male
Description描述: ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY | ADENOSINE DEAMINASE; ADA
Remarks: Phenotypically normal; !Kung South African; marked deficiency of red cell adenosine deaminase; 2-3% enzyme activity in RBCs, 10-12% enzyme activity in leukocytes, and 10-30% enzyme activity in cultured fibroblasts; ADA enzyme present in sufficeint amounts in cell types to prevent accumulation of toxic metabolites and resulting immunodeficiency; enzyme has ADA 1 electrophoretic mobility; normal humoral and cellular immunity; enzyme phenotypes: 6PGD=A, ADA=1, Neutral A-glucosidase C=2; contains unstable ADA protein and 3-4 times the normal level of normal ADA mRNA; donor subject is homozygous for a C>T transition at nucleotide 698 of the ADA gene [698C>T (alternately described as 793C>T)] resulting in a substitution of isoleucine for threonine at codon 233 [Thr233Ile(T233I)]; same donor as GM03029 fibroblast.
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來(lái)源: LCL
Gene: ADA
Disease疾病類型:
Mutations突變: THR233ILE
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