GM25363 SMITH-MAGENIS SYNDROME; SMS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25363 SMITH-MAGENIS SYNDROME; SMS B-Lymphocyte Cell Line
史密斯-马吉尼斯综合症；短信细胞株
Description描述：Clinically affected; diagnosed at 3 years old via FISH; feeding problems during infancy; brachycephaly; midface retrusion (hypoplasia); strabismus; frontal bossing; broad nasal bridge; abnormal ear shape; prognathism; synophrys; dental abnormalities; esotropia; dry skin; pes planus; scoliosis; syndactyly; short broad hands; little use of hands; elbow limitations; abnormal gait; constipation; short stature;weakness; hypotonia; peripheral neuropathy; decreased pain sensitivity; hoarse voice; intellectual disability (IQ 62); obsessive compulsive disorder; self-injurious behaviors; decreased tolerance to exercise; frequent ear infections (PE tubes inserted); excessive choking and drooling; difficulty digesting foods; unaffected mother is GM25364 and unaffected father is GM25365.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25363
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:20 YR
Gender性别:Female
Cell Type细胞类型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:LCL
Gene:
Mutations突变:
Ethnicity:
Family:3204
Relationship:proband
Karyotype:46,XX,del(17)(p11.2).arr[hg19]17p11.2(16740269-20354018)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