GM04518 MANNOSIDOSIS, ALPHA B, LYSOSOMAL | MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM04518 MANNOSIDOSIS, ALPHA B, LYSOSOMAL | MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 Cell Line
甘露糖苷增多症，α B，溶酶体 |甘露糖苷酶，α，2B 类，成员 1；曼2B1细胞株
Description描述：Severe growth failure; hypotonia; psychomotor retardation; mild hepatosplenomegaly; x-ray findings compatible with Hurler's syndrome; 8% of control fibroblast and 1% of control leukocyte acid-alpha-mannosidase activity; the donor subject is homozygous for a C>G transversion at nucleotide 1067 in exon 8 of the MAN2B1 gene (1067C>G) resulting in the substitution of arginine for proline at codon 356 [Pro356Arg (P356R)]
Category分类：Fibroblast
ID编号:NTCC®-GM04518
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:2 YR
Gender性别:Female
Cell Type细胞类型: MANNOSIDOSIS, ALPHA B, LYSOSOMAL | MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1
Affected State:Yes
Product:Fibroblast
Gene:MAN2B1
Mutations突变:PRO356ARG
Ethnicity:
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