Name細(xì)胞名稱：NTCC? GM23684 CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1 B-Lymphocyte Cell Line
氨基甲酰磷酸合成酶 I 缺乏癥 |氨基甲酰磷酸合成酶I； CP1細(xì)胞株
Description描述：Clinically affected; onset of symptoms at age 15 years; past hyperammonemic events; normal neurological evaluation at age 5 years; A>G transition at nucleotide 3101 in exon 25 of the CPS1 gene (3101A>G) resulting in the substitution of glycine for glutamic acid at codon 1034 [Glu1034Gly (E1034G)]; treatments include: citrulline arginine supplement, benzoate,sodium phenylbutyrate, and protein restriction;
Category分類：B-Lymphocyte
ID編號(hào):NTCC?-GM23684
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:5 YR
Gender性別:Female
Cell Type細(xì)胞類型: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | CARBAMOYL PHOSPHATE SYNTHETASE I; CPS1
Affected State:Yes
Product:LCL
Gene:CPS1
Mutations突變:GLU1034GLY
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type組織來源:Blood
Complete Growth Medium完全培養(yǎng)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(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):

Supplier供應(yīng)商:BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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