NTCC® NA02406 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA02406

Name：NTCC® NA02406 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA02406
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: 2 MO
Gender性别: Male
Description描述: PHENYLKETONURIA
Remarks: Clinically affected; pyloric stenosis; normal level of dihydropteridine reductase in skin fibroblasts; donor subject is a compound heterozygote: one allele has a T>G transversion at nucleotide 896 in exon 8 of the PAH gene [896T>G] resulting in a substitution of cysteine for phenylalanine at codon 299 [Phe299Cys (F299C)] and a second allele has a C>T transition at nucleotide 1222 in exon 11 of the PAH gene [1222C>T] resulting in a substitution of tryptophan for arginine at codon 408 [Arg408Trp (R408W)]. Same subject as GM27578 (stem cell).
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: PAH
Disease疾病类型:
Mutations突变: ARG408TRP PHE299CYS
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