NTCC® NA04395 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA04395

Name：NTCC® NA04395 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA04395
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: 6 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: Phenotypically normal; erythrocyte ADA deficiency diagnosed as part of a newborn screening program; transient diaper rash and oral thrush in first months of life; in first 2 years of life had a few colds and several episodes of otitis media; normal development with height and weight at 90th percentile; total lymphocyte counts were normal with 70% T cells on repeated determinations; delayed hypersensitivity to Candida albicans and mumps was present; responses of peripheral lymphocytes to PHA and allogeneic cells were normal; immunoglobulin levels rose appropriately with age; radiographs of chest, skull, and pelvis were normal; ADA activity in erythrocytes is undetectable; ADA enzyme activity in peripheral lymphocytes is 0.9% of control values with an immunoreactive ADA protein present at 1.6% of normal CRM; ADA activity and immunoreactive protein in lymphoblast culture detectable at 4% of control; ADA activity in fibroblasts detectable at 14% of control; dATP in RBC's is elevated; parents and brother have heterozygous levels of ADA activity; donor subject is a compound heterozygote: one allele has a T>C transition at nucleotide 320 in exon 4 of the ADA gene [320T>C] resulting in a substitution of proline for leucine at codon 107 [Leu107Pro (L107P)] and a second allele has a C>T transition at nucleotide 631 of the ADA gene [631C>T] resulting in a substitution of cysteine for arginine at codon 211 [Arg211Cys (R211C)]; same donor as GM04396 lymphocyte.
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ADA
Disease疾病类型:
Mutations突变: ARG211CYS LEU107PRO
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
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