Name：NTCC? NA02471 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA02471
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:
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; physical exam at birth was normal; subject was placed in protective isolation after birth and had good weight gain and no infections during the first 6 weeks; no thymic shadow seen on chest x-ray; perianal abscesses were intermittently present between one and ten months of age; normal development; normal kidneys but possible obstruction of left ureter; T cells were 44% and 46% at 3 and 9 days of age, respectively and B cells were 43% and 19%, respectively; leukopenia; immunoglobulin levels at 20 days of age were normal; deficient RBC & fibroblast ADA activity; residual ADA activity could be detected in mononuclear-cell/platelet preparations; less than 1.5% of ADA activity was seen in amniotic fluid cells; enzyme phenotypes: G6PD=B; 6PGD=A; peptidases A, C, & D=1; & PGM 1 & 3=1; donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 911 in exon 10 of the ADA gene [911T>G] resulting in a substitution of arginine for leucine at codon 304 [Leu304Arg (L304R)] and a second allele has a C>T transition at nucleotide 466 of the ADA gene [466C>T] resulting in a substitution of cysteine for arginine at codon 156 [Arg156Cys (R156C)]; affected sister died at 9 months of age; mother is GM02472; same donor as GM02434 fibroblast.
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: ARG156CYS LEU304ARG
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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