NTCC® NA23437 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23437

Name：NTCC® NA23437 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23437
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: 15 YR
Gender性别: Female
Description描述: ARGININOSUCCINIC ACIDURIA | ARGININOSUCCINATE LYASE; ASL
Remarks: Clinically affected; onset of symptoms at age 12 years; elevated argininosuccinic acid in blood and urine; learning disabilities; mental retardation with developmental delay; on citrulline arginine supplement; protein restriction; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 839 in the ASL gene (839delG); the second allele has a G>A transition at nucleotide 35 in exon 2 of the ASL gene (35G>A) resulting in the substitution of glutamine for arginine at codon 12 [Arg12Gln (R12Q)]
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: 839delG ARG12GLN
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