GM24206 ANGELMAN SYNDROME; AS | UBIQUITIN-PROTEIN LIGASE E3A; UBE3A B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24206 ANGELMAN SYNDROME; AS | UBIQUITIN-PROTEIN LIGASE E3A; UBE3A B-Lymphocyte Cell Line
天使综合症；作为 |泛素蛋白连接酶 E3A； UBE3A细胞株
Description描述：Clinically affected; global developmental delay with limited speech; molecular testing revealed mutation UBE3A of 317C>A;treatments include include: physical, occupational, and speech therapy as well as learning/communications device; medications include Lamotrigine; mother, 2 siblings and multiple maternal relatives also have the mutation; mother is GM24207.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM24206
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: American Indian/Alaska Native
Age年龄:5 YR
Gender性别:Male
Cell Type细胞类型: ANGELMAN SYNDROME; AS | UBIQUITIN-PROTEIN LIGASE E3A; UBE3A
Affected State:Yes
Product:LCL
Gene:UBE3A
Mutations突变:c.317C>A
Ethnicity:American Indian/Alaskan Native/Caucasian
Family:3088
Relationship:proband
Karyotype:47,XY,+9[5]/46,XY[35].arr 15q11.1q11.2(20541967-22588019)x1
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