Name：NTCC? NA13805 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA13805
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: 3 YR
Gender性別: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: AT394AIV1; Ataxia at age 1 1/2 years; diagnosed at one year 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): the maternal allele of the ATM gene carries a T-to C transition at nucleotide 1229 which converts the val-410 codon to an ala codon [Val410Ala (V410A)], resulting in a missense mutation in exon 11; a second allele carries a 20 bp deletion and a 2 bp insertion at nucleotide 6736 (6736del20 ins2) which results in protein 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: 6736_6755delinsCA (p.Cys2246_Thr2252delinsHis) c.935_936insAlu (p.Leu312fs)
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