Name：NTCC? NA14641 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA14641
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 47 YR
Gender性別: 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其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: F5 HFE
Disease疾病類型:
Mutations突變: 20009404T>C CYS282TYR HIS63ASP
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
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