GM25401 SMITH-MAGENIS SYNDROME; SMS B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM25401 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; symptom onset at infancy; diagnosed by geneticist; decreased fetal movement during pregnancy; craniofacial: dysmorphic facial features, ear malformation, hypertelorism, mid-face retrusion (hypoplasia), obstructive sleep apnea, hoarse voice; cutaneous: hyperpigmentation, hypopigmentation; musculoskeletal: brachydactyly, pes planus, short neck; neurological clinical findings: defective vision, strabismus, weakness, hypotonia, absent reflexes; normal neurological structure; growth development: fine motor delay, gross motor delay, short stature, speech delay, overweight/obese; cognitive/behavioral: intellectual disability - 47 IQ/DQ, ADHD, oppositional defiant disorder, sleep disturbance, self-injurious behaviors, disruptive behavior disorder, impulsive unprovoked aggression, hebephrenic, sometimes elated; karyotype: 46,XY; mutation in RAI1 gene: c.527A>T (K1753X).
Category分类：B-Lymphocyte
ID编号:NTCC®-GM25401
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:
Gender性别:Male
Cell Type细胞类型: SMITH-MAGENIS SYNDROME; SMS
Affected State:Yes
Product:LCL
Gene:RAI1
Mutations突变:LYS1753TER
Ethnicity:
Family:
Relationship:proband
Karyotype:46,XY.arr[hg19](1-22)x2,(XY)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