NTCC® NA05816 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA05816

Name：NTCC® NA05816 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA05816
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: 3 WK
Gender性别: Female
Description描述: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | ADENOSINE DEAMINASE; ADA
Remarks: Phenotypically normal; <1% ADA activity in RBC's; ADA activity LL is 868; partial deficiency in other tissues; possible variant subgroup; no thymic shadow by x-ray; 50% of normal purine nucleoside phosphorylase activity; 28% of normal ADA activity in lymphoid cell lines; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 226 in exon 4 of the ADA gene [226C>T] resulting in a substitution of tryptophan for arginine at codon 76 [Arg76Trp(R76W)] and a second allele has a C>T transition at nucleotide 821 in exon 9 of the ADA gene [821C>T] resulting in a substitution of leucine for proline at codon 274 [Pro274Leu(P274L)]; mother is GM05817.
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: ARG76TRP PRO274LEU
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