NTCC® NA20942 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20942

Name：NTCC® NA20942 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20942
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:
Gender性别: Male
Description描述: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2
Remarks: Clinically affected; abnormal isoelectric focusing of transferrin; phosphomannomutase activity = 0.4 nM/min/mg (normal = 4.2 nM/min/mg); donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 425 in exon 5 of the PMM2 gene [425G>A] resulting in a substitution of histidine for arginine at codon 141 [Arg141His (R141H)] and a second allele has a C>A transversion at nucleotide 357 in exon 5 of the PMM2 gene [357C>A] resulting in a substitution of leucine for phenylalanine at codon 119 [Phe119Leu (F119L)].
Alternate IDs其他编号:
Cell Type细胞类型: Fibroblast
Source组织来源: Fibroblast
Gene: PMM2
Disease疾病类型:
Mutations突变: ARG141HIS PHE119LEU
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