GM01494 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® GM01494 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：Deficient Alpha-L-iduronidase, beta-glucuronidase, beta-galactosidase, and neuraminidase; 28% of normal level of N-acetylglucosaminylphosphotransferase activity; GlcNAc-Phosphotransferase activity = 14% (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 an A>C transversion at nucleotide 174 in exon 1 of the GNPTAB gene [174A>C] resulting in a substitution of glutamine for lysine at codon 4 [Lys4Gln (K4Q)] 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].
Category分类：Fibroblast
ID编号:NTCC®-GM01494
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: White
Age年龄:16 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:2-BP DEL, 3665TC LYS4GLN
Ethnicity:
Family:1012
Relationship:proband
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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