GM22164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® GM22164 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; affected half-brother died at age 7 months; carrier half-sister with a deceased affected son; at birth: weight to height ratio was 2.8/49; multiple infections; cholesterol at >1 year of age was 40 mg/dl; onset of dilated cardiomyopathy at birth; carnitine levels at 40/46 (free/total); 3-methylglutaconate in plasma is 496 nmol/l; donor subject is hemizygous for a C>T change in exon 9 of the TAZ (G4.5) gene [c.697C>T] resulting in a stop at codon 233 [Gln233Ter (Q233X)];
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22164
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:7 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:GLN233TER
Ethnicity:AFRICAN-AMERICAN
Family:2795
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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