GM25372 SMITH-MAGENIS SYNDROME; SMS Skin, Skin Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25372 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; diagnosis at age 15 years via FISH test; brachycephaly; midface retrusion (hypoplasia); frontal bossing; broad nasal bridge; abnormal ear shape; down-turned upper lip; prognathism; defective vision; iris abnormalities; decreased pain sensitivity; hypotonia; 1 leg shorter by 1.5cm; hip dysplasia; femoral acetabular impingement; pes planus; scoliosis; vertebral anomaly; elbow limitations; fine motor delay; gross motor delay; short stature; intellectual delay (IQ showed 60 and 61 on separate tests); sleep disturbance; brief period of self-injurious behavior; medications include Depakote, Risperdone and Lyvoxal; see lymph (GM24296); unaffected father is GM24297; unaffected mother is GM24298.
Category分类：Fibroblast
ID编号:NTCC®-GM25372
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:22 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:POLISH
Family:3115
Relationship:proband
Karyotype:46,XY,del(17)(p11.2).arr[hg19]17p11.2(16757134-18073610)x1
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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