NTCC® NA24288 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA24288

Name：NTCC® NA24288 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA24288
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: 8 YR
Gender性别: Female
Description描述: SMITH-MAGENIS SYNDROME; SMS
Remarks: Clinically affected; symptom onset at age 2 years; diagnosed at age 5; dysmorphic facial features; brachycephaly; mid-face hypoplasia; dental abnormalities; brachydactyly; pes planus; foot anomaly (bilateral); hypopigmentation; aplastic pituitary; defective vision; weakness; hypotonia; ataxia; decreased pain sensitivity; hoarse voice; asthma; hypothyroidism; frequent pneumonia as a toddler; fine motor delay; gross motor delay; speech delay; learning disability; intellectual disability; ADHD; self-injurious behavior; see GM24315 (Fibro); unaffected mother is GM24290 (Lymph); unaffected father is GM24289 (Lymph).
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene:
Disease疾病类型:
Mutations突变:
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