NTCC® NA02825 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA02825

Name：NTCC® NA02825 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02825
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: 4 MO
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: Clinically affected; lymphoblastoid cell line contains less than 5% of normal ADA activity and immunoreactive protein; absent IgM and IgA; weak MLC response; absent T cells; no detectable ADA activity in erythrocytes; normal ADA mRNA level but cells contain mRNAs of abnormal size; normal ADA mRNAs and ADA mRNAs missing exon 4 are present in approximately equal abundance; donor subject is a compund heterozygote: one 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)] and a second allele has an A>G transition in the 3-prime splice site of intron 3 of the ADA gene resulting in a deletion of exon 4 from mature RNA; same donor as GM02824 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: ALA329VAL IVS3AS, A>G, -2, EX4DEL
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