NTCC® NA23495 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23495

Name：NTCC® NA23495 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23495
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: 8 MO
Gender性别: Female
Description描述: ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
Remarks: Clinically affected; hypoketotic hypoglycemia; diagnosed at age 5 days; onset of symptoms at age 5 months; on levocarnitine; has g-tube; see GM23496 Fibroblast; donor subject is homozygous for an A>G transition at nucleotide 985 in exon 11 of the ACADM gene (985A>G) resulting in the substitution of glutamic acid for lysine at codon 304 [Lys304Glu (K304E)]
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: LYS304GLU
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