GM17538 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17538 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 B-Lymphocyte Cell Line
雷特综合症；实时传输时间 |甲基-CPG-结合蛋白2； MECP2细胞株
Description描述：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)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM17538
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:7 YR
Gender性别:Male
Cell Type细胞类型: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:LCL
Gene:MECP2
Mutations突变:SER134CYS
Ethnicity:
Family:2196
Relationship:brother
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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