NTCC® NA16497 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16497

Name：NTCC® NA16497 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16497
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: 13 YR
Gender性别: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; abnormal EEG and sleep patterns; ambulatory with assistance; breath holding and teeth grinding; loss of purposeful hand use; nonverbal; repetitive hand motions; scoliosis; seizures; muscle rigidity; spasticity; joint contractures; growth retardation; donor subject has a 763C>T nonsense mutation in exon 4 of the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a stop codon for a conserved arginine at codon 255 [ARG255TER (R255X)] in the transcriptional-repression (TRD) functional 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: ARG255TER
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