GM17476异丁酰辅酶A脱氢酶缺乏症|酰基辅酶A脱氢酶家族，成员8； ACAD8 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17476 ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8 Cell Line
异丁酰辅酶A脱氢酶缺乏症|酰基辅酶A脱氢酶家族，成员8； ACAD8细胞株
Description描述：Clinically affected with isolated deficiency of isobutyryl-Co-A dehydrogenase; parents are first cousins; birth weight 6 lbs and 2 ounces; birth length 20 inches; breast fed for first 6 weeks of life with no problems but developed feeding intolerance when placed on formula; at 11 months of age subject found to be anemic, have cardiomegaly, and was <5th percentile for growth; echocardiogram at 11 months diagnosed dilated cardiomyopathy and atrial septal defect; endomyocardial biopsy found no evidence of myocarditis, ischemia, or signs of storage; severe plasma carnitine deficiency noted at 12 months (total carnitine 6um, free carnitine 5 um, esterified carnitine 1 um); plasma acylcarnitine analysis during treatment with carnitine revealed markedly increased butyryl/isobutyrylcarnitine; responded well to carnitine therapy and by age 27 months subject had normal growth and development and no evidence of cardiac dysfunction; donor subject is homozygous for a G>A transition at nucleotide 905 in exon 8 of the ACAD8 gene [905G>A] resulting in a substitution of glutamine for arginine at codon 302 [Arg302Gln (R302Q)].
Category分类：Fibroblast
ID编号:NTCC®-GM17476
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: Hispanic/Latino
Age年龄:2 YR
Gender性别:Female
Cell Type细胞类型: ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8
Affected State:Yes
Product:Fibroblast
Gene:ACAD8
Mutations突变:ARG302GLN
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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