Name：NTCC? NA08684 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA08684
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: 1 YR
Gender性別: Female
Description描述: ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
Remarks: Clinically affected; recurrent episodes of vomiting, diarrhea, hypoglycemia, failure of ketosis, coma, and low plasma carnitine levels; deficient fibro medium-chain Acyl CoA dehydrogenase activity; donor subject is a compound heterozygote: one allele has an A>G transition at nucleotide 985 in exon 11 of the ACADM (MCAD) gene (c.985A>G) resulting in a substitution of glutamic acid for lysine at codon 304 [Lys304Glu (K304E)also known as K329E] and the second allele has a G>A transition at nucleotide 347 in exon 5 (c.347G>A) resulting in a substitution of tyrosine for cysteine at codon 116 [Cys116Tyr (C116Y)also known as C91Y]; donor subject is also heterozygous for the following polymorphisms: c.-34T>C (5 prime UTR), IVS2-20T>C, IVS3+10T>C, c.351A>C (p.T117), and IVS5+32C>G
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ACADM
Disease疾病類型:
Mutations突變: CYS116TYR LYS304GLU
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
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