Name：NTCC? NA09607 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA09607
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:
Gender性別: Female
Description描述: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Remarks: Mutation data has been reported in the literature for the untransformed line. New NGS data revealed that the donor subject is a compound heterozygote with mutations in the ATM gene (GRCh37, hg 19): c.8307 G>A (p.Trp2769Ter)(W2769X)/heterozygous, Chr:position 11: 108213987; 11q22.3q25 deletion/heterozygous; pSVori-transformed AT2SF fibroblasts; line TAT2SF; demonstrates x-ray resistant DNA synthesis and sensitivity to the lethal effects of ionizing radiation; no detectable freely replicating SV40 viral sequences; hyperdiploid karyotyped.
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ATM
Disease疾病類型:
Mutations突變: 11q22.3q25 deletion c.8307G>A (p.Trp2769Ter)
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
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