Name：NTCC? NA11319 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA11319
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: ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
Remarks: Clinically affected; first episode at 9 months of age - EEG revealed mild diffuse slow wave, elevated liver function tests, enlarged liver, seizures; urine test showed hexanoylglycine and phenylpropionylglycine; episodic hypoketotic hypoglycemia resembling Reye syndrome; leukocytes show <10% of normal MCAD activity; donor subject is homozygous for a G>C transition at nucleotide 166 in exon 3 of the ACADM (MCAD) gene (c.166G>C) resulting in the substitution of proline for alanine at codon 56 [Ala56Pro (A56P)]; microarray showed complete UPD chromosome 1, paternal.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: ACADM
Disease疾病類型:
Mutations突變: ALA56PRO
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(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net