GM22766 SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1 B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM22766 SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1 B-Lymphocyte Cell Line
史密斯-马吉尼斯综合症；短信 |视黄酸诱导基因1； RAI1细胞株
Description描述：Clinically affected; low set angular ears; upslanting eyes; hypertelorism seizures; frequent ear and respiratory infections; constipation; speech delay; intellectual disability; sleep disturbance; repetitive behaviors; delayed toilet training; donor subject has a G>T change at nucleotide 223 of the RAI1 gene resulting in the substitution of serine for alanine at codon 75 [Ala75Ser (A75S)]; mother is GM22767.
Category分类：B-Lymphocyte
ID编号:NTCC®-GM22766
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: East Indian
Age年龄:7 YR
Gender性别:Female
Cell Type细胞类型: SMITH-MAGENIS SYNDROME; SMS | RETINOIC ACID-INDUCED GENE 1; RAI1
Affected State:Yes
Product:LCL
Gene:RAI1
Mutations突变:ALA75SER
Ethnicity:PAKISTANI/AFGHANI/PERSIAN/PORTUGUESE/GERMAN
Family:2902
Relationship:proband
Karyotype:46,XX.ish 17p11.2(LIS1,FLI1)x2
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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Email：Biovector@163.com
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