GM14070 ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM14070 ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM B-Lymphocyte Cell Line
共济失调-毛细血管扩张；在|共济失调-毛细血管扩张症突变基因；自动提款机细胞株
Description描述：AT340AIB8; diagnosed at age 2; onset of ataxia at age 2; elevated serum AFP [37.5 (normal range is 0-8.9)]; no history of cancer; donor subject is a compound heterozygote: the maternal allele contains two missense mutations: a TG-to-GC transversion at nucleotide 7875 in exon 55 converting the asp-2625 codon (GAT) to an glu codon (GAG) [ASP2625GLU (D2625E)] and the ala-2626 codon to a pro codon [ALA2626PRO (A2626P)]; the paternal allele carries a C-to-A transition (TCA>TAA ) at nucleotide 5771 which converts the ser-1924 codon in exon 41 of the ATM gene to a nonsense codon [SER1924TER (S1924X)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM14070
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:9 YR
Gender性别:Male
Cell Type细胞类型: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Affected State:Yes
Product:LCL
Gene:ATM
Mutations突变:ASP2625GLU; ALA2626PRO SER1924TER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

Supplier供应商:BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
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