GM50324染色体缺失 |重复染色体 |拷贝数变异 (CNV) 参考面板 02 B-淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM50324 CHROMOSOME DELETION | DUPLICATED CHROMOSOME | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02 B-Lymphocyte Cell Line
染色体缺失 |重复染色体|副本编号变异 (CNV) 参考面板 02细胞株
Description描述：Small for gestational age; small head; enlarged anterior fontanel; separated metopic suture; prominent forehead; downslanting palpebral fissures; abnormal ears; migrognathia; short sternum; right camptodactyly; bilateral clinodactyly of the fifth finger; prominent heels; sacral dimple; ventricular septal defect; patent ductus arteriosus; pulmonary stenosis; failure to thrive; severe global developmental delay; bilateral simian crease; deceased at age 11 months
Category分类：B-Lymphocyte
ID编号:NTCC®-GM50324
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:11 MO
Gender性别:Male
Cell Type细胞类型: CHROMOSOME DELETION | DUPLICATED CHROMOSOME | COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
Affected State:
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY,der(1)dup(1)(q41q43)del(1)(q43).ish der(1)dup(1)(q41q43)del(1)(q43)(CEB108/T7+,D1S2728-).arr 1q41q43(220640801-236223828)x3,1q43q44(236225618-247190999)x1,2q13(110125518-110337635)x1,13q34(112341486-112877092)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
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