NTCC® NA17538 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA17538

Name：NTCC® NA17538 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17538
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: 7 YR
Gender性别: Male
Description描述: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Remarks: Clinically affected; seizures; nonambulatory; abnormal sleep patterns; chewing/biting/swallowing difficulties; constipation; growth retardation; irritability and agitation; loss of purposeful hand use; muscle rigidity/spasticity; nonverbal; poor circulation in legs and feet; repetitive hand motions; small feet; teeth grinding; tremors; period of normal development until 6-8 months; affected sister is GM17540; mother is GM17539; mother is clinically unaffected but carries same mutation as her two affected children; donor subject carries a missense mutation (C>G) at nucleotide 401 (401C>G) in the gene encoding methyl-CpG binding protein 2 (MECP2), resulting in a substitution of a cysteine for a serine at amino acid 134 [SER134CYS (S134C)].
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: SER134CYS
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