Name：NTCC? NA02605 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA02605
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: 8 MO
Gender性別: 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; deficient ADA activity in RBC's, lymphoid line, and fibroblasts; enzyme phenotypes: 6PGD=A, Pepitdases A,C, and D= 1; Acid A-glucosidase=1, Neutral A-glucosidase C=1; < 1% of normal ADA activity and CRM protein in lymph culture; normal ADA mRNA; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 396 in exon 4 of the ADA gene [396C>T] resulting in a substitution of tryptophan for arginine at codon 101 [Arg101Trp(R101W)] and a second allele has a G>A transition at nucleotide 727 in exon 7 of the ADA gene [727G>A (alternately described as 632G>A)] resulting in a substitution of histidine for arginine at codon 211 [Arg211His(R211H)]; same subject B-lymphocyte is GM02606; mother is GM02607(fibro)/GM02608 (lymph) and father is GM02609(fibro)/GM02610(lymph); same donor as GM02606 lymphocyte; clinical documentation and in-house testing via amelogenin and DYS227 PCR assays have identified this sample as female.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ADA
Disease疾病類型:
Mutations突變: ARG101TRP ARG211HIS
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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