Name：NTCC? NA13328 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13328
Size/Quantity數(shù)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: 32 YR
Gender性別: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT13LA; onset of ataxia at age 6; required wheelchair at age 15; minimal bulbar telangiectasia at age 29; elevated serum AFP; culture shows increased radiosensitivity using a clonogenic survival assay; complementation group C; new NGS data revealed that donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.2098C>T (p.Gln700*) on the first allele, and c.5763-1050A>G (Intronic) on the second allele where a substitution in intron 40 results in an insertion in the cDNA of 137 bp at nucleotide 5763 leading to a frameshift and truncation.
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: c.2098C>T (p.Gln700*), c.5763-1050A>G (intronic)
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(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net