GM22147 BARTH SYNDROME; BTHS | TAFAZZIN; TAZ B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22147 BARTH SYNDROME; BTHS | TAFAZZIN; TAZ B-Lymphocyte Cell Line
巴斯综合症； BTHS |塔法津；塔兹细胞株
Description描述：Clinically affected; four affected maternal uncles (three deceased before age one year); dilated cardiomyopathy with onset at age 4 months; neutropenia; growth retardation; weight to height ratio at birth 3.1/49; cholesterol at >1 year of age was 107 mg/dl; skeletal muscle weakness; carnitine levels 40/46 (free/total); 3-methylglutaconate in plasma is 2001 nmol/l; donor subject is hemizygous for a donor splice site mutation in the TAZ (G4.5) gene: IVS1+5G>C
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22147
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:
Age年龄:4 YR
Gender性别:Male
Cell Type细胞类型: BARTH SYNDROME; BTHS | TAFAZZIN; TAZ
Affected State:Yes
Product:LCL
Gene:TAZ
Mutations突变:IVS1+5G>C
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net