NTCC® NA16271 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA16271

Name：NTCC® NA16271 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA16271
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: 3 YR
Gender性别: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Growth and developmental delay; can walk only with assistance; nonverbal; no hand use; constant repetitive hand motions; no seizures, but significantly abnormal EEG; teeth grinding; some sleep difficulties; eating problems with minor reflux; breath holding and hyperventilation; small feet; some tremor; the donor subjects carries a C>T transition at nucleotide 473 (ACG>ATG) in exon 3 of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in the substitution of threonine 158 by methionine [THR158MET (T158M)] 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: THR158MET
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