NTCC® NA07983 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA07983

Name：NTCC® NA07983 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA07983
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: 25 YR
Gender性别: Female
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; microcephaly; scoliosis diagnosed at age 12; severe kyphoscoliosis at age 25; early milestones were slow; started losing skills at age 2; currently severely retarded; behavioral phenotype includes hand wringing that began at age 2 and became more intense; no sleep problems; no self-injurious behavior; abnormal EEG; CT scan at age 25 showed evidence of atrophy; donor subject carries a frameshift mutation, 705delG, in the gene encoding methyl-CpG binding protein 2 (MECP2); see GM07982 fibroblast.
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: 705delG
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