GM17471 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17471 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; hypotonia; hypoglycemia; developmental delay; ethylmalonic aciduria; EMA elevated in urine; elevated butyryl and carnitine; deficient small-chain Acyl-CoA dehydrogenase by electron-transferring flavoprotein reduction assay; undetectable small-chain Acyl-CoA dehydrogenase activity in fibroblasts (undetectable represents <10% of control SCAD activity); donor subject is homozygous for a C>T transition at nucleotide 511 of the ACADS gene [511C>T] resulting in a substitution of tryptophan for arginine at codon 147 [Arg147Trp (R147W)]; exon counting and quantitative PCR have not been done to confirm homozygosity
Category分类：Fibroblast
ID编号:NTCC®-GM17471
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:9 YR
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:ARG147TRP
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
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