NTCC® NA23683 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23683

Name：NTCC® NA23683 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23683
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 YR
Gender性别: Female
Description描述: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC
Remarks: Clinically affected; symptom onset at age 2 years; past hyperammonemic events; pathogenic mutation: C>T transition at nucleotide 274 in exon 3 of the OTC gene (c.274C>T) resulting in a stop codon at Arg92 [Arg92Ter (R92X)]; normal neurological evaluation at 6 years of age; treatments include: citrulline arginine supplement and sodium phenylbutyrate; protein restriction;
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: ARG92TER
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