GM11265 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® GM11265 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：AT31LA; onset of ataxia at age 3; AFP (379); few infections; 46,XX,t(7;14); new NGS data revealed that donor subject is a compound heterozygote with two pathogenic variants in the ATM gene (GRCh37, hg 19): c.5971G>T (Chr11:108183190)(p.Glu1991*) in exon 40 resulting in a truncation, and c.7638_7646delTAGAATTTC (Chr11:108202614)(p.Arg2547_Ser2549del) in exon 52 resulting in a deletion of 3 amino acids beginning at codon 2547.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM11265
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:6 YR
Gender性别:Female
Cell Type细胞类型: ATAXIA-TELANGIECTASIA; AT | ATAXIA-TELANGIECTASIA MUTATED GENE; ATM
Affected State:Yes
Product:LCL
Gene:ATM
Mutations突变:c.5971G>T (p.Glu1991*) c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del)
Ethnicity:ENGLISH
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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