NTCC® NA23641 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23641

Name：NTCC® NA23641 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23641
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: 3 YR
Gender性别: Male
Description描述: ARGININOSUCCINIC ACIDURIA
Remarks: Asymptomatic; diagnosed by newborn screening; mental retardation and developmental delay; argininosuccinic acid in blood or urine; mental age of 1.5 years; Bayley DQ = 110; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 532 in exon 7 of the ASL gene (532G>A) resulting in a substitution of methionine for valine at codon 178 [Val178Met (V178M)] and the second allele has a substitution of threonine for methionine at codon 256 [Met256Thr (M256T)]; treatments include: citrulline arginine supplement; sodium phenylbutyrate; and protein restriction.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: ASL
Disease疾病类型:
Mutations突变: MET256THR VAL178MET
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