GM16864 EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1 | EMERIN; EMD B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16864 EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1 | EMERIN; EMD B-Lymphocyte Cell Line
埃默里-德莱福斯肌营养不良症，1； EDMD1 |艾梅林； EMD细胞株
Description描述：Clinically affected; deceased at age 60 from arrhythmia; well until adulthood, then slowly progressive proximal muscle weakness; cardiomyopathy with heart blockage; elbow contractures; no family history; donor subject has a five bp insertion in exon 6 at nucleotide 1712 (1712-1713insTGGGC) of the emerin (EMD) gene, resulting in a frameshift and a stop codon at amino acid 238.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM16864
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:57 YR
Gender性别:Male
Cell Type细胞类型: EMERY-DREIFUSS MUSCULAR DYSTROPHY, 1; EDMD1 | EMERIN; EMD
Affected State:Yes
Product:LCL
Gene:EMD
Mutations突变:1712insTGGGC
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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Email：Biovector@163.com
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