GM22382巴斯综合症； BTHS |塔法津； TAZ B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22382 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; restrictive cardiomyopathy; at 3 years of age had first episode of wheezing; multiple episodes of asthma and recurrent pneumonia from age 3 to 6; cardiomegaly on chest radiograph at age 6 1/2; echocardiogram demonstrated findings typical of a restrictive cardiomyopathy as well as mild left-ventricular noncompaction and pulmonary hypertension; no significant ventricular dilation; cardiac catheterization confirmed restrictive cardiomyopathy with severe pulmonary hypertension and significantly elevated pulmonary vascular resistance; no neutropenia or neurologic abnormalities; inadequate weight gain without nasogastric feedings; mild exercise intolerance; no arrhythmias; currently awaiting heart transplant; donor subject is hemizygous for a T>C change at nucleotide 383 in exon 5 of the TAZ (G4.5) gene [c.383T>C] resulting in the substitution of serine for phenylalanine at codon 128 [Phe128Ser (F128S)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22382
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: Black/African American
Age年龄:8 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:PHE128SER
Ethnicity:AFRICAN-AMERICAN
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