NTCC® NA02552 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02552

Name：NTCC® NA02552 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02552
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 7 YR
Gender性别: Female
Description描述: MUCOPOLYSACCHARIDOSIS TYPE IIIB | N-ACETYLGLUCOSAMINIDASE, ALPHA-; NAGLU
Remarks: 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)]
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: NAGLU
Disease疾病类型:
Mutations突变: ARG297TER ARG643HIS
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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