Name：NTCC? NA17476 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17476
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 2 YR
Gender性別: 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其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ACAD8
Disease疾病類型:
Mutations突變: ARG302GLN
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net