GM23986 BARTH SYNDROME; BTHS | TAFAZZIN; TAZ B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23986 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; shortness of breath; tachypnea; tachycardia; cyanosis; microcephaly (HC=37cm, < 3rd percentile); short stature; height 57cm (3rd percentile); weight 3.89 kg (10-25th percentile); no craniofacial dysmorphic features or other notable organomegaly; significant cardiomegaly; dilated left ventricle with ejection fraction of only 10%; severe systolic dysfunction of the dilated left ventricle; moderate dilation of left atrium; moderate insufficiency of mitral valve; mild tricuspid valve insufficiency at high velocity; pulmonary hypertension; elevated acetylcarnitinine levels (35.014 umol/L, normal 1.62-16.06); levocarnitine supplementation accounted for low plasma amino acids; reduced protein intake; low white blood cell count (3.3K/UL, normal 4.9-17.8); mild neutropenia (15.4%, normal 17-65% of WBC); B-type natriuretic peptide was than 5000 (normal <100 pg/mL); Troponin I and high sensitivity CRP found very high; mutation analysis: missense mutation 553A>G(Met185Val) in exon7 of the TAZ (tafazzin) gene located on Xq28; successful heart transplant; maternal uncle died at two years of age with similiar symptoms; maternal aunt died at 2 months of age from complications following right ventricle-to-pulmonary artery shunt with atrial septectomy on cardiopulmonary bypass; family studies reveal mother, maternal aunt, and grandmother carry same missense mutation.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23986
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:2 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:MET185VAL
Ethnicity:German-Irish
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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