Name：NTCC? NA13802 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA13802
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)存方式: 4C
Species物種來源:
Age年齡: 18 YR
Gender性別: Male
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Clinically affected; diagnosed at age 4 yr; telangiectasias since age 4 yr present on legs and conjunctiva; elevated serum AFP; reduced IgA; chromosomes show increased spontaneous breakage; wheelchair-dependent at age 10 yr; donor subject has a 2 bp deletion at nucleotide 2284 in exon 17 of the ATM gene (2284delCT) resulting in a frameshift at codon 762 and a truncation (L762fsX); a second mutation was not reported
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: ATM
Disease疾病類型:
Mutations突變: 2284delCT
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)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