Name：NTCC? NA13652 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13652
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: 30 YR
Gender性別: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; deceased; diagnosed with ataxia at 1.5 years of age, telangiectasias at 6 years of age, and ataxia-telangiectasia a little past 6 years of age; elevated AFP; new NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.7630-2A>C (splice acceptor) and c.8655dup (p.Val2886Cysfs*10); alternate ID AT128AIV3.
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.7630-2A>C c.8655dup (p.Val2886Cysfs*10)
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(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
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