Name：NTCC? NA17473 Fibroblast DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17473
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:
Gender性別: Male
Description描述: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF | ACYL-CoA DEHYDROGENASE, SHORT-CHAIN; ACADS
Remarks: Clinically affected; mother had acute fatty liver of pregnancy; failure to thrive; mild developmental delay; mitochondrial extracts from muscle and fibroblasts were deficient of small-chain Acyl-CoA dehydrogenase activity; mild elevation of butyrylcarnitine by plasma acylcarnitine analysis; mild ethylmalonic aciduria (23 mmol/mol creatinine, control <18 mmol/mol) by urine organic acid analysis; molecular genetic analysis failed to identify the common 1528G>C mutation in the TFP gene; donor subject is homozygous for 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)].
Alternate IDs其他編號:
Cell Type細胞類型: Fibroblast
Source組織來源: Fibroblast
Gene: ACADS
Disease疾病類型:
Mutations突變: GLY185SER
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