GM17583雷特综合症；实时传输时间 |甲基-CPG-结合蛋白2； MECP2 B 淋巴细胞 LCL Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17583 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; also has triple X syndrome; normal growth parameters at birth; weak suck and poor weight gain in first few weeks of life; intestinal malrotation at 4 months; psychomotor development normal until 9 months when development slowed; walked at 16 months; head circumference and weight decreased at 6 months of age; regression of social skills evident at 20 months of age; bruxism, constipation and decreased sensitivity to pain developed at 21 months of age; significant delay in language development; no language and limited functional use of hands at age 6; MRI of cranium normal; EEG performed at 44 months showed intermittent occurence of epileptiform discharges, suggestive of partial seizures; supernumerary X chromosome is maternally derived; X-inactivation studies indicated preferential inactivation of the paternal allele; parental origin of MECP2 mutation could not be determined; donor subject has one allele that has a C>G transversion in the MBD coding region of the gene encoding methyl-CpG binding protein 2 (MECP2) resulting in a substitution of a valine for a leucine at codon 100 [Leu100Val (L100V)].
Category分类：B-Lymphocyte
ID编号:NTCC®-GM17583
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:Female
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:LEU100VAL
Ethnicity:
Family:
Relationship:proband
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
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