NTCC® NA17476 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA17476

Name：NTCC® NA17476 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17476
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 2 YR
Gender性别: Female
Description描述: ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY | ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8; ACAD8
Remarks: 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)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: ACAD8
Disease疾病类型:
Mutations突变: ARG302GLN
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net