NTCC® NA02013 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02013

Name：NTCC® NA02013 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02013
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: 2 WK
Gender性别: Male
Description描述: MUCOLIPIDOSIS II; ML2; ML II | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Remarks: Arab; fibroblasts show deficiencies for several lysosomal hydrolases; undetectable level of N-acetylglucosaminylphosphotransferase activity; GlcNAc-Phosphotransferase activity = <0.1% (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 duplication in exon 16 of the GNPTAB gene [3395_3398dupCTAC] resulting in a frameshift and truncation of the protein in the beta subunit [Y1079fsX1081] and a second allele has a 2-bp deletion in exon 19 of the GNPTAB gene [3665_3666delTC] resulting in a frameshift and truncation of the protein in the beta subunit [L1168fsX1172].
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: 2-BP DEL, 3665TC 4-BP DUP, 3395CTAC
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