GM50114 DUPLICATED CHROMOSOME | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM50114 DUPLICATED CHROMOSOME | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02 B-Lymphocyte Cell Line
重复染色体|副本编号变异 (CNV) 参考面板 02细胞株
Description描述：Developed a severe seizure disorder at age 5 months which persists; left cryptorchidism; biotin deficiency; defect in the enzyme dihydropteridine reductase, resulting in higher-than normal levels of biopterin; profound mental retardation; develpomental level at age 9 years is less than 6 months of age; failure to thrive; growth retardation; down-slanting palpebral fissures; epicanthal folds; an alternating esotropia; short nose; open-mouth habitus; high palate; hyperextensible joints; hypoplastic nails; severely hypotonic with decreased reflexes; ventricular septal defect; prominent calcaneus/club foot
Category分类：B-Lymphocyte
ID编号:NTCC®-GM50114
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:
Age年龄:9 YR
Gender性别:Male
Cell Type细胞类型: DUPLICATED CHROMOSOME | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
Affected State:
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY,dup(18)(q12.2q21).ish dup(18)(q12.2q21)(wcp18+).arr 18q12.2q21.32(34757108-56178804)x3
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