Name：NTCC? NA11265 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11265
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: 6 YR
Gender性別: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT31LA; onset of ataxia at age 3; AFP (379); few infections; 46,XX,t(7;14); new NGS data revealed that donor subject is a compound heterozygote with two pathogenic variants in the ATM gene (GRCh37, hg 19): c.5971G>T (Chr11:108183190)(p.Glu1991*) in exon 40 resulting in a truncation, and c.7638_7646delTAGAATTTC (Chr11:108202614)(p.Arg2547_Ser2549del) in exon 52 resulting in a deletion of 3 amino acids beginning at codon 2547.
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.5971G>T (p.Glu1991*) c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del)
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