NTCC® NA25401 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA25401

Name：NTCC® NA25401 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA25401
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄:
Gender性别: Male
Description描述: SMITH-MAGENIS SYNDROME; SMS
Remarks: 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).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: RAI1
Disease疾病类型:
Mutations突变: LYS1753TER
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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