GM17472 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® GM17472 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; benign heart murmur; reactive airway disease; recurrent migraine headaches usually accompanied by a visual aura; noninflammatory myopathy; severe leg and calf pain after infections and exertion; acute episode of severe muscle cramping, contractions and pain associated with elevated CPK levels in serum occurred at age 8 years; at the time of this acute episode the total carnitine was 22.5 (normal 33.9-69) and free carnitine was 18.7 (normal 30.2-56.8); recurrent rhabdomyolysis; light microscopy performed on muscle biopsy was normal; 50% of normal carnitine palmitoyl transferase II activity; normal small-chain Acyl-CoA dehydrogenase activity in fibroblasts and muscle; fibroblast oxidation studies showed marked elevation of butylcarnitine; elevation of butyryl carnitine after MCT load consistent with a partial defect in short-chain acyl-Co-A dehydrogenase deficiency; ethylmalonic acid level was normal in urine; donor subject is a compound heterozygote: one allele has 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)] and a second allele has 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)].
Category分类：Fibroblast
ID编号:NTCC®-GM17472
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:13 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 GLY185SER
Ethnicity:
Family:
Relationship:proband
Karyotype:
Tissue Type组织来源:Skin
Complete Growth Medium完全培养基: BioVector® Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM 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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