NTCC® NA03066 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA03066

Name：NTCC® NA03066 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA03066
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: 23 FW
Gender性别: Female
Description描述: MUCOLIPIDOSIS II; ML2; ML II | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Remarks: Deficient fibroblast beta-galactosidase and N-acetylglucosaminylphosphotransferase activity; similarly affected brother; GlcNAc-Phosphotransferase activity = 1% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject is a compound heterozygote: one allele has a 1-bp deletion in exon 8 of the GNPTAB gene [1012delA] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [T284fsX288] and a second allele has a 1-bp deletion in exon 12 of the GNPTAB gene [1744delC] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [C528fsX546].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: GNPTAB
Disease疾病类型:
Mutations突变: 1012delA 1744delC
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