Name細(xì)胞名稱：NTCC? GM03066 MUCOLIPIDOSIS II; ML2; ML II | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB Cell Line
粘脂沉積癥 II； ML2； ML II | N-乙酰葡萄糖胺-1-磷酸轉(zhuǎn)移酶，α/β 亞基； GNPTAB細(xì)胞株
Description描述：Deficient fibroblast beta-galactosidase and N-acetylglucosaminylphosphotransferase activity; similarly affected brother; GlcNAc-Phosphotransferase activity = 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 1-bp deletion in exon 8 of the GNPTAB gene [1012delA] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [T284fsX288] and a second allele has a 1-bp deletion in exon 12 of the GNPTAB gene [1744delC] resulting in a frameshift and truncation of the protein in the alpha subunit and no beta subunit [C528fsX546].
Category分類：Fibroblast
ID編號(hào):NTCC?-GM03066
Size/Quantity數(shù)量: 1 Flask/2 Vials
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT/Dry Ice
Storage儲(chǔ)存方式: RT/Liquid Nitrogen
Race: White
Age年齡:23 FW
Gender性別:Female
Cell Type細(xì)胞類型: MUCOLIPIDOSIS II; ML2; ML II | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
Affected State:Yes
Product:Fibroblast
Gene:GNPTAB
Mutations突變:1012delA 1744delC
Ethnicity:
Family:34
Relationship:proband
Karyotype:
Tissue Type組織來(lái)源:
Complete Growth Medium完全培養(yǎng)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(yǎng)條件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鑒定數(shù)據(jù):
References參考文獻(xiàn):

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