GM02552 MUCOPOLYSACCHARIDOSIS TYPE IIIB | N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02552 MUCOPOLYSACCHARIDOSIS TYPE IIIB | N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU Cell Line
IIIB 型粘多糖症 | N-乙酰氨基葡萄糖苷酶，α-；纳格鲁细胞株
Description描述：Deficient N-acetyl-alpha-glucosaminidase; increased urinary heparan sulfate; compound heterozygote; one allele carries a C>T transition in nucleotide 889 (889C>T) in the NAGLU gene, resulting in a stop codon at codon 297 [Arg297ter(R297X)]; the second allele has a mutation resulting in a substitution of histidine for arginine at codon 643 [Arg643His(R643H)]
Category分类：Fibroblast
ID编号:NTCC®-GM02552
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:7 YR
Gender性别:Female
Cell Type细胞类型: MUCOPOLYSACCHARIDOSIS TYPE IIIB | N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
Affected State:Yes
Product:Fibroblast
Gene:NAGLU
Mutations突变:ARG297TER ARG643HIS
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Ham's F12 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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