NTCC® NA02756 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02756

Name：NTCC® NA02756 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02756
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 YR
Gender性别: Male
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: Clinically affected; deficient ADA activity in lymphoblasts and mononuclear cells; enzyme phenotypes: 6PGD=A, G6PD=B, Peptidases A,C,and D=1, Acid Aglucosidase=1, Neutral A-glucosidase C= 3-2; normal ADA mRNA level; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 727 in exon 7 of the ADA gene [727G>A (alternately described as 632G>A)] resulting in a substitution of histidine for arginine at codon 211 [Arg211His (R211H)] and a second allele has a C>T transition at nucleotide 1081 in exon 11 of the ADA gene [1081C>T] resulting in a substitution of valine for alanine at codon 329 [Ala329Val (A329V)].
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: ALA329VAL ARG211HIS
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