Name：NTCC? NA05816 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA05816
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: 3 WK
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: Phenotypically normal; <1% ADA activity in RBC's; ADA activity LL is 868; partial deficiency in other tissues; possible variant subgroup; no thymic shadow by x-ray; 50% of normal purine nucleoside phosphorylase activity; 28% of normal ADA activity in lymphoid cell lines; donor subject is a compound heterozygote: one allele has a C>T transition at nucleotide 226 in exon 4 of the ADA gene [226C>T] resulting in a substitution of tryptophan for arginine at codon 76 [Arg76Trp(R76W)] and a second allele has a C>T transition at nucleotide 821 in exon 9 of the ADA gene [821C>T] resulting in a substitution of leucine for proline at codon 274 [Pro274Leu(P274L)]; mother is GM05817.
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: ARG76TRP PRO274LEU
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
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net