Name細胞名稱：NTCC? GM00113 MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB Cell Line
粘脂沉積癥 IIIA | N-乙酰葡萄糖胺-1-磷酸轉移酶，α/β 亞基； GNPTAB細胞株
Description描述：Deficient fibroblast Alpha-L-iduronidase, B-glucuronidase, B-hexosaminidase, B-galactosidase, A-fucosidase, A-galactosidase, A-mannosidase, and GLcNAc phosphotransferase activity; complementation group A; GlcNAc-Phosphotransferase activity = 12% (measured as specific activity in cell lysate and reported as percentage of activity in normal fibroblasts); donor subject is homozygous for 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)].
Category分類：Fibroblast
ID編號:NTCC?-GM00113
Size/Quantity數量: 1 Flask/2 Vials
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT/Dry Ice
Storage儲存方式: RT/Liquid Nitrogen
Race: White
Age年齡:2 YR
Gender性別:Female
Cell Type細胞類型: MUCOLIPIDOSIS IIIA | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Affected State:Yes
Product:Fibroblast
Gene:GNPTAB
Mutations突變:LYS4GLN
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:
Complete Growth Medium完全培養基: BioVector? Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing傳代方法:
Cryopreservation凍存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培養條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數據:
References參考文獻:

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