GM25993 MYOPATHY, CENTRONUCLEAR, 1; CNM1 | TITIN; TTN | CARDIOMYOPATHY DILATED 1G; CMD1G B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25993 MYOPATHY, CENTRONUCLEAR, 1; CNM1 | TITIN; TTN | CARDIOMYOPATHY DILATED 1G; CMD1G B-Lymphocyte Cell Line
肌病，核中心，1； CNM1 |提丁； TTN |心肌病扩张 1G；命令1G细胞株
Description描述：Affected carrier; history of dilated cardiomyopathy; hypertension; Type 2 diabetes mellitus, hyperlipidemia, hypothyroidism; supraventricular tachycardia (SVT) ablated; chest pain requiring stress evaluations; genetic testing revealed that the donor is heterozygous for a mutation in intron 191 of the TTN gene: c.37112-1 G>A, IVS191-1 G>A; medications: cetirizine (Zyrtec), Diovan, ergocalciferol (Drisdol), escitalopram (Lexapro), Hyoscyamine, Januvia, Metformin, omeprazole (Prilosec), pravastatin (Pravachol), and Synthroid; affected carrier daughter is GM25951 (lymphoblast); affected grandson is GM23417 (lymphoblast) and GM25936 (fibroblast); affected grandson's father is GM25948 (lymphoblast); family is referenced in Neurology (2013) 81:1205-14, PMID:23975875-affected grandson is subject 314-1.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25993
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:71 YR
Gender性别:Female
Cell Type细胞类型: MYOPATHY, CENTRONUCLEAR, 1; CNM1 | TITIN; TTN | CARDIOMYOPATHY DILATED 1G; CMD1G
Affected State:Yes
Product:LCL
Gene:TTN
Mutations突变:37112-1G>A (IVS191-1G>A)
Ethnicity:IRISH/FRENCH CANADIAN/ENGLISH
Family:3304
Relationship:grandmother
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
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