GM13907 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® GM13907 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：Clinically affected; diagnosed at age 2 yr; telangiectasias of eyes, arms, and legs since age 2 yr; wheelchair-dependent since age 8 yr; chromosome studies showed increased spontaneous breakage; donor subject is a compound heterozygote: one allele has a G>A change at nucleotide 2250 of the ATM gene (2250G>A) resulting in the in-frame skipping of exon 16 leading to a 42 codon deletion beginning at codon 709 (I709del42); the second allele has an A>G change in intron 49 (IVS49-2A>G) resulting in the in-frame skipping of exon 50 leading to a 38 codon deletion beginning at codon 2315 (M2315del38)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM13907
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:18 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:2250G>A IVS49-2 A>G
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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