NTCC® NA16546 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16546

Name：NTCC® NA16546 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16546
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: 15 YR
Gender性别: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; symptoms began at age 6 months; significantly abnormal EEG; breath holding; constipation, growth and mental retardation; limited purposeful hand use; nonverbal; repetitive hand motions; agitation; scoliosis; seizures; some tremors and teeth grinding; small hands and feet; severely microcephalic; gait apraxia and ataxia; donor subject is heterozygous for an 880C>T transition in the MECP2 gene resulting in an arg294-to-ter [ARG294TER (R294X)] nonsense mutation.
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: ARG294TER
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