GM16548 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 Skin, Unspecified Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM16548 RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2 Skin, Unspecified 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; abnormal sleep patterns; ambulatory with some rigidity/spasticity; spine has slight curve; breath holding; constipation; decelerating head circumference; limited purposeful hand use; nonverbal; poor hand and feet circulation; repetitive hand motions; seldom exhibits self injurious behavior; small feet; teeth grinding; minor eating difficulties and reflux; tremors; EEG showed minor abnormalities; GM16547 lymphoblast from the same donor; donor subject is heterozygous for a 730C>T transition in the MECP2 gene resulting in the substitution of a stop codon for a conserved glutamine [GLU244TER (Q244X)].
Category分类：Fibroblast
ID编号:NTCC®-GM16548
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:5 YR
Gender性别:Female
Cell Type细胞类型: RETT SYNDROME; RTT | METHYL-CPG-BINDING PROTEIN 2; MECP2
Affected State:Yes
Product:Fibroblast
Gene:MECP2
Mutations突变:GLU244TER
Ethnicity:
Family:1955
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
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