GM29052 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | MANNOSIDASE, BETA A, LYSOSOMAL; MANBA Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM29052 MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | MANNOSIDASE, BETA A, LYSOSOMAL; MANBA Cell Line
甘露糖苷增多症，β A，溶酶体；曼斯巴德 |甘露糖苷酶，β A，溶酶体；曼巴细胞株
Description描述：Clinically affected. No dysmorphic features. Moderate to severe sensorineural hearing loss. Using hearing aids. Behavioral disturbances, anxiety, obsessive compulsive traits, perseveration. Learning difficulties. Precocious puberty. Advanced bone age. Homozygous mutation c.545G>A (p.R182G) in the MANBA gene. CYB21A2 gene test negative.
Category分类：Fibroblast
ID编号:NTCC®-GM29052
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:8 YR
Gender性别:Male
Cell Type细胞类型: MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB | MANNOSIDASE, BETA A, LYSOSOMAL; MANBA
Affected State:At Risk
Product:Fibroblast
Gene:MANBA
Mutations突变:c.545G>A (p.R182G)
Ethnicity:Mexican/Italian
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
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
http://www.biovector.net