Name：NTCC? NA04258 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA04258
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 4 YR
Gender性別: 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; admitted to hospital at age 4 months with pneumonia, a history of recurrent infections, and failure to thrive; severe combined immunodeficiency was diagnosed based on lymphopenia, decreased immunoglobins, and minimal response of peripheral lymphocytes to mitogens and allogenic cells; at age 4 months, prior to blood transfusions, only trace amounts of adenosine deaminase activity were present in erythrocytes and activity was greatly decreased in lymphocytes and granulocytes; concentrations of dATP and dADP were over 100-fold higher than normal in lymphocytes and erythrocytes; excretion of deoxyadenosine was increased in the urine; no thymic shadow seen on chest x-ray; incompetent humoral and cellular immunity; both parents have heterozygous ADA levels; at age 2.5 years subject was free of infection, at the 10th percentile for height and weight, and had normal psychomotor development; produces normal ADA mRNA; donor subject is a compound 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 a C>T transition at nucleotide 872 in exon 10 of the ADA gene [872C>T] resulting in a substitution of leucine for serine at codon 291 [Ser291Leu (S291L)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: ADA
Disease疾病類型:
Mutations突變: ALA329VAL SER291LEU
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
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