NTCC® NA14641 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA14641

Name：NTCC® NA14641 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA14641
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: 47 YR
Gender性别: Female
Description描述: HEMOCHROMATOSIS; HFE | FACTOR V DEFICIENCY
Remarks: Clinically normal; affected son is GM14640 and affected spouse is GM14646; serum ferritin 31 ng/ml; serum iron 123 mcg/dl; donor subject is a compound heterozygote: allele one carries a G>A transition at nucleotide 845 in exon 4 of the HFE (HLA-H) gene [845G>A] resulting in a substitution of a tyrosine for a cysteine at codon 282 [Cys282Tyr (C282Y)]; allele two carries a C>G transversion at nucleotide 187 in exon 2 of the HFE (HLA-H) gene [187C>G] resulting in a substitution of aspartic acid for histidine at codon 63 [His63Asp (H63D)]; heterozygous for a G>A transition at nucleotide 1691 (1691G>A) of the Factor V (F5) gene resulting in a substitution of glutamine for arginine at codon 506 [Arg506Gln (R506Q)]
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: F5 HFE
Disease疾病类型:
Mutations突变: 20009404T>C CYS282TYR HIS63ASP
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