NTCC® NA11110 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA11110

Name：NTCC® NA11110 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA11110
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: PHENYLKETONURIA
Remarks: Clinically affected; on dietary therapy; hyperphenylalaninemia; donor subject is a compound heterozygote: one allele has a A>G transition at nucleotide 1241 in exon 12 of the PAH gene [c.1241A>G] resulting in a pathogenic substitution of cysteine for tyrosine at codon 414 [p.Tyr414Cys (p.Y414C)] and a second allele has a pathogenic splice site mutation at nucleotide 1315, c.1315+1G>A [IVS12+1G>A].
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: PAH
Disease疾病类型:
Mutations突变: IVS12DS, G>A, +1 (c.1315+1 G>A) TYR414CYS (c. 1241A>G)
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