Name：NTCC? NA21849 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA21849
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: 15 YR
Gender性別: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; ataxia first observed at age 12 years; telangiectasias of the eyes observed at age 11 years; spontaneous chromosome breakage; elevated serum alpha fetoprotein; no family history of cancer; donor subject has one allele with a 3 bp deletion and 4 bp insertion at nucleotide 3245 in exon 24 of the ATM gene (3245ATC>TGAT) resulting in a shift in the open reading frame and introducing a premature stop codon several amino acids downstream at codon 1095 [His1082Ter(H1082X)]; the mutation on the other allele is as yet unidentified
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: 3245ATC>TGAT
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