GM17473酰基辅酶A脱氢酶，短链，缺乏|酰基辅酶A脱氢酶，短链； ACADS成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17473 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS Cell Line
酰基辅酶A脱氢酶，短链，缺乏 |酰基辅酶A脱氢酶，短链；计算机辅助设计系统细胞株
Description描述：Clinically affected; mother had acute fatty liver of pregnancy; failure to thrive; mild developmental delay; mitochondrial extracts from muscle and fibroblasts were deficient of small-chain Acyl-CoA dehydrogenase activity; mild elevation of butyrylcarnitine by plasma acylcarnitine analysis; mild ethylmalonic aciduria (23 mmol/mol creatinine, control <18 mmol/mol) by urine organic acid analysis; molecular genetic analysis failed to identify the common 1528G>C mutation in the TFP gene; donor subject is homozygous for a G>A transition at nucleotide 625 of the ACADS gene [625G>A] resulting in a substitution of serine for glycine at codon 185 [Gly185Ser (G185S)].
Category分类：Fibroblast
ID编号:NTCC®-GM17473
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:
Gender性别:Male
Cell Type细胞类型: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Affected State:Yes
Product:Fibroblast
Gene:ACADS
Mutations突变:GLY185SER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
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
NTCC典型培养物保藏中心
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Email：Biovector@163.com
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