NTCC® NA11319 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11319

Name：NTCC® NA11319 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11319
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: 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其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ACADM
Disease疾病类型:
Mutations突变: ALA56PRO
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