GM26147 MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM26147 MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1 B-Lymphocyte Cell Line
先天性肌病；类型未知 |兰尼碱受体1； RYR1细胞株
Description描述：Unaffected carrier; asymptomatic; Sanger sequencing of the RYR1 gene revealed a heterozygous c.4766A>C (p.Q1589P) variant of unknown clinical significance; same variant also present in child (not in repository); the subject is also heterozygous for the following variants of unknown clinical significance in disease genes related to the clinical phenotype: c.4078G>A (p.V1360I) in the MYH7 gene, and c.2039C>T (p.P680L) in the FLNA gene on the X chromosome.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM26147
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:33 YR
Gender性别:Female
Cell Type细胞类型: MYOPATHY, CONGENITAL; TYPE UNKNOWN | RYANODINE RECEPTOR 1; RYR1
Affected State:No
Product:LCL
Gene:FLNA MYH7 RYR1
Mutations突变:c.2039C>T p.Q1589P V1360I
Ethnicity:Polish, English
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net