GM02558 MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM02558 MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB Cell Line
粘脂沉积症 IIIA | N-乙酰葡萄糖胺-1-磷酸转移酶，α/β 亚基； GNPTAB细胞株
Description描述：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].
Category分类：Fibroblast
ID编号:NTCC®-GM02558
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: Black/African American
Age年龄:9 YR
Gender性别:Female
Cell Type细胞类型: MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Affected State:Yes
Product:Fibroblast
Gene:GNPTAB
Mutations突变:GLN278TER IVS17DS,T>G,+6
Ethnicity:
Family:501
Relationship:sister
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids 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
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