NTCC® NA11411 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11411

Name：NTCC® NA11411 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11411
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: 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; Amish; onset at age 3 days with respiratory distress, pneumonia, and lymphopenia; remained profoundly lymphopenic during first 6 weeks of life with few mature T or B cells and with 23% mononuclear cells bearing NK markers; at one month of age both IgA and IgM were non-detectable and there was absence of proliferative response of lymphocytes to the mitogens PHA, Con A, or PWM; chondro-osseous dysplasia; ADA activity in erythrocytes was less than 0.2% of normal; ADA activity in lymphoblast culture was less than 0.1% of normal; erythrocyte deoxy ATP was markedly elevated; donor subject is homozygous for a G>A transition at nucleotide 646 in exon 7 of the ADA gene [646G>A] resulting in a substitution of arginine for glycine at codon 216 [Gly216Arg (G216R)]; parents are GM11412 and GM11413.
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: GLY216ARG
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