NTCC® NA24007 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA24007

Name：NTCC® NA24007 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA24007
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: 13 YR
Gender性别: Female
Description描述: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | ORNITHINE CARBAMOYLTRANSFERASE; OTC | DISORDERS OF THE UREA CYCLE
Remarks: Clinically affected; pathogenic mutation identified: deletion of entire OTC gene; ADHD; learning disabilities and mental retardation/developmental delay; past hyperammonemic events; treatment includes citrulline arginine supplment, protein restriction and sodium phenylbuterate; neurological evaluation at age 7 showed severe speech delay, speech dysfunction; psychological testing at age 10; mental age is 1.2 years.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: OTC
Disease疾病类型:
Mutations突变: OTC, DEL
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