GM24313 SMITH-MAGENIS SYNDROME; SMS Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM24313 SMITH-MAGENIS SYNDROME; SMS Skin, Skin Cell Line
史密斯-马吉尼斯综合症；短信细胞株
Description描述：Clinically affected, symptom onset at birth; diagnosed at age 25; premature birth (6 weeks) with decreased fetal movement in utero; dysmorphic facial features; dental abnormalities, high palate; brachydactyly; pes planus; scoliosis; short stature; ventriculomegaly; defective vision, strabismus, hearing defect, hypotonia and decreased pain sensitivity; history of pneumonia ages 2-9 with hospitalization due to low tone, reduced peristalsis, and aspiration, left lower lobe and middle lobe removed; constipation; gastroesophageal reflux; enuresis; failure to thrive; enlarged heart noted during echocardiogram and x-rays; fine motor delay; gross motor delay; absent or sparse speech; autism spectrum disorder; learning disability-IQ 50; ADHD; oppositional defiant disorder; obsessive compulsive disorder; sleep disturbance; repetitive behaviors; self-injurious behaviors; anxiety disorder; disruptive behavior disorder; see GM24286 (Lymph); unaffected mother is GM24287 (Lymph).
Category分类：Fibroblast
ID编号:NTCC®-GM24313
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: White
Age年龄:27 YR
Gender性别:Male
Cell Type细胞类型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:Fibroblast
Gene:
Mutations突变:
Ethnicity:IRISH/SWEDISH/NORWEGIAN
Family:3111
Relationship:proband
Karyotype:46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16740269-20457488)x1
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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