NTCC® NA23419 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23419

Name：NTCC® NA23419 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23419
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: 25 YR
Gender性别: Female
Description描述: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; OTC | ORNITHINE CARBAMOYLTRANSFERASE; OTC
Remarks: Clinically affected; onset of symptoms at age 6 years; elevated orotate after allopurinol challenge with absence of argininosuccinic acid (orotate/creatinine = 33.2mmol/mol); on citrulline arginine supplement, sodium benzoate and sodium phenylbutyrate; protein restriction; past hyperammonemic events; normal neurological evaluation at age 5; donor subject is heterozygous for a C>T transition at nucleotide 533 in exon 5 of the OTC gene (533C>T) resulting in the substitution of methionine for threonine at codon 178 [Thr178Met (T178M)]
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: THR178MET
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