GM08436 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® GM08436 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：Ataxia; ocular telangiectasias; immune deficiency; submitter observed chromosome instability, including multiple rearrangements of chromosome #7 and/or #14 in 11% of PBL; PBL show increased chromo breakage after bleomycin; negative family history; see GM08391A Fibroblast; the paternal allele is a 4bp deletion at nucleotide 4642 (4642delGATA) resulting in a frameshift and a truncation at codon 1548 [Asp1548ter (D1548fsX)]; the maternal allele is a substitution (G>T) at nucleotide 5932 leading to the skipping of exon 42 and a truncation at codon 1978 (E1978X)
Category分类：B-Lymphocyte
ID编号:NTCC®-GM08436
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:5 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:4642del4 5932G>T
Ethnicity:
Family:2035
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
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