NTCC® NA23409 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23409

Name：NTCC® NA23409 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23409
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: 48 YR
Gender性别: Female
Description描述: ARGININEMIA | ARGINASE LIVER; ARG1
Remarks: Clinically affected; onset of symptoms at age 6 years; five fold elevated above mean arginine level in blood; decreased arginase enzyme level in red blood cells; communication disorder; learning disabilities; mental retardation with developmental delay; past hyperammonemic events; neurological evaluation was normal at age 7; protein restriction; donor subject has a nonsense mutation in exon 4 of the ARG1 gene resulting in a stop at Ala122 [Ala122Ter (A122X)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ARG1
Disease疾病类型:
Mutations突变: ALA122TER
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