GM24370 MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24370 MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2 B-Lymphocyte Cell Line
肌病，核中心，1； CNM1 |动力2； DNM2细胞株
Description描述：Clinically affected; onset of symptoms at birth; no motor function ever achieved; cardiac and brain involvement; de novo mutation in the DNM2 gene: c.1115T>C (likely pathogenic), c.2139 T>C (likely benign), c.858-12C>A; has 24 hour breathing support with tracheal tube and full ventilator use; deceased at close to 3 years of age; parents (not in repository) are negative for any of the variants in the subject.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24370
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:6 MO
Gender性别:Male
Cell Type细胞类型: MYOPATHY, CENTRONUCLEAR, 1; CNM1 | DYNAMIN 2; DNM2
Affected State:Yes
Product:LCL
Gene:Dynamin 2
Mutations突变:c.1115T>C (p.Phe372Ser)
Ethnicity:GERMAN
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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