NTCC® NA03043 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA03043

Name：NTCC® NA03043 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03043
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: 16 YR
Gender性别: 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其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ADA
Disease疾病类型:
Mutations突变: THR233ILE
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