NTCC® NA20945 Fibroblast DNA-BioVector NTCC典型培养物保藏中心Coriell NA20945

Name：NTCC® NA20945 Fibroblast DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA20945
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: 7 YR
Gender性别: Female
Description描述: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | PHOSPHOMANNOMUTASE 2; PMM2
Remarks: Clinically affected; abnormal isoelectric focusing pattern of serum transferrin; mild phenotype; donor subject is a compound heterozygote: one allele has two nucleotides mutated in exon 2 of the PMM2 gene [95TA>GC] resulting in a substitution of arginine for leucine at codon 32 [Leu32Arg (L32R)] and a second allele has a T>C transition at nucleotide 470 in exon 6 of the PMM2 gene [470T>C] resulting in a substitution of serine for phenylalanine at codon 157 [Phe157Ser (F157S)].
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: LEU32ARG PHE157SER
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