GM27980 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 _x000D_ B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM27980 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 _x000D_ B-Lymphocyte Cell Line
智力低下，常染色体显性遗传 40； MRD40细胞株
Description描述：Unaffected father of affected proband; fibro is GM27968; clinical exome sequencing test results were negative for the pathogenic heterozygous de novo CHAMP1 variant c.542_543delCT (p.Ser181CysfsX5) harbored by affected daughter, GM27963 (fibro) and GM27967 (LCL); though this parent does not have the pathogenic variant, the possibility of germline mosaicism cannot be excluded; positive for the Factor V Leiden variant not detected in the affected daughter.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM27980
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: Other
Age年龄:32 YR
Gender性别:Male
Cell Type细胞类型: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 _x000D_
Affected State:No
Product:LCL
Gene:
Mutations突变:
Ethnicity:Bosnian
Family:3504
Relationship:father
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