NTCC® NA02558 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02558

Name：NTCC® NA02558 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02558
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: 9 YR
Gender性别: Female
Description描述: MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Remarks: 40% of normal beta-galactosidase and 15% of normal beta-hexosaminidase activity; deficient leukocyte N-acetylglucosaminylphosphotransferase and increased serum B-hexosaminidase; GlcNAc-Phosphotransferase activity = 3% (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 C>T transition at nucleotide 996 in exon 8 of the GNPTAB gene [996C>T] resulting in a substitution of a stop codon for glutamine at codon 278 [Gln278Ter (Q278X)] and a second allele has a donor splice site mutation in intron 17 of the GNPTAB gene [IVS17+6T>G] resulting in the skipping of exon 17 and a frameshift with a premature termination at residue 1085 [P1084fsX1085].
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: GLN278TER IVS17DS,T>G,+6
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