NTCC® NA16480 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16480

Name：NTCC® NA16480 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16480
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: 14 YR
Gender性别: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; onset at 18 months of age; diagnosed at age 3; EEG showed minor abnormalities; breath holding, swallowing difficulties; growth retardation; limited purposeful hand use; muscle rigidity; some repetitive hand motions; speaks using single words; some circulation problems; occasional tremors; no scoliosis; seizures; small feet; teeth grinding; donor subject has a 916C-T (916C>T) transition in exon 3 of the MECP2 gene resulting in an arg306-to-cys [ARG306CYS (R306C)] amino acid change.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: MECP2
Disease疾病类型:
Mutations突变: ARG306CYS
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