NTCC® NA16405 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16405

Name：NTCC® NA16405 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16405
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: 6 YR
Gender性别: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; symptoms began at 6 months of age; loss of purposeful hand use; repetitive hand motions; acquired microcephaly; developmental delay; nonverbal; eating difficulties with reflux; teeth grinding; no seizures; some tremor; wide-based apractic gait; hyperventilation; diffuse hypotonia; circulation problems; cranial MRI showed deep left frontal sulci; deep tendon reflexes are 1-2+ with bilateral plantar flexion; slight spinal curve; the donor subject carries a G>A transition at nucleotide 481 in the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of the conserved amino acid glycine 161 by valine [GLY161VAL (G161V)] in the methyl-binding domain.
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: GLY161VAL
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