Name細胞名稱：NTCC? GM23858 N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS DEFICIENCY B-Lymphocyte Cell Line
N-乙酰谷氨酸合成酶缺乏； NAGS 缺陷細胞株
Description描述：Decreased (<20% of control) NAGS enzyme activity in liver; pathogenic mutation identified in NAGS gene: -3063 C>A(start ATG=nucleotide#1); residual enzyme activity 26% of normal control; treatment includes: citrulline arginine supplement, sodium phenybutrate, and protein restriction; past hyperammonemic events; normal neurologic evaluation at age 6.
Category分類：B-Lymphocyte
ID編號:NTCC?-GM23858
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:20 YR
Gender性別:Female
Cell Type細胞類型: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY; NAGS DEFICIENCY
Affected State:At Risk
Product:LCL
Gene:OTC
Mutations突變:-3063 C>A
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養基: BioVector? Roswell Park Memorial Institute Medium 1640 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:

Supplier供應商:BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
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