Name：NTCC? NA13792 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13792
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: 26 YR
Gender性別: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; wheelchair-bound and eye telangiectasias since age 4 to 5 yr; no history of recurrent infections; donor subject has a G>A change in intron 28 of the ATM gene (IVS28+1G>A) resulting in a cryptic 3' splice leading to the in-frame deletion of 40 codons (120 bp) from codon 1292 to 1331; a second mutation was not reported
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: ATM
Disease疾病類型:
Mutations突變: IVS28+1G>A
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