GM02049 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® GM02049 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：Arab; approximately 50% of normal alphamannosidase activity; 2 affected children; clinically unaffected father of GM02050 and 02051; donor subject is heterozygous for an A>T transversion at nucleotide 212 in exon 2 of the MAN2B1 gene ( 212A>T) resulting in the substitution of leucine for histidine at codon 71 [His71Leu (H71L)]
Category分类：Fibroblast
ID编号:NTCC®-GM02049
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:39 YR
Gender性别:Male
Cell Type细胞类型: MANNOSIDOSIS, ALPHA B, LYSOSOMAL | MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1
Affected State:
Product:Fibroblast
Gene:MAN2B1
Mutations突变:HIS71LEU
Ethnicity:
Family:33
Relationship:father
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
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