GM23800 CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM23800 CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1 B-Lymphocyte Cell Line
中心核肌病 |兰尼碱受体1； RYR1细胞株
Description描述：Clinically affected; symptom onset before age 2; maximum motor function achieved: climbing stairs with handrail; Compound heterozygous mutation in RYR1 gene: c.6721C>T resulting in p.Arg2241* and c.325C>T resulting in p.Arg109Trp; Affected brother is GM23796; unaffected family members: mother GM23798, brother GM23799, and brother GM23797.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM23800
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:30 YR
Gender性别:Male
Cell Type细胞类型: CENTRONUCLEAR MYOPATHY | RYANODINE RECEPTOR 1; RYR1
Affected State:Yes
Product:LCL
Gene:RYR1
Mutations突变:ARG109TRP ARG2241*
Ethnicity:SCANDINAVIAN
Family:3072
Relationship:brother
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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