NTCC® NA14650 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA14650
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- 货 号:NTCC®-Coriell NA14650
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Name:NTCC® NA14650 LCL DNACategory分类:DNACat#货号:NTCC®-Coriell NA14650Size/Quantity数量: 1 VialBiosafety Level生物安全级别:1Shipping Info运输方式: RTStorage储存方式: 4CSpecies物种来源: Age年龄: 21 YRGender性别: FemaleDescription描述: HEMOCHROMATOSIS; HFE | FACTOR V DEFICIENCY | HUMAN GENE MUTATION PANEL - HEMOCHROMATOSISRemarks: Clinically normal; affected brother is GM14640 and affected father is GM14646; serum ferritin 101 ng/ml; serum iron 131 mcg/dl; compound heterozygote for the Cys282Tyr and His63Asp mutations (C282Y/ H63D) of the HFE (HLA-H) gene; heterozygous for a guanine-to-adenine substitution at nucleotide 1691 of the Factor V (F5) gene resulting in a replacement of arg506 (CGA) by gln (CAA) [ARG506GLN (R506Q) or G1691A].Alternate IDs其他编号: Cell Type细胞类型:
LCLSource组织来源: LCLGene: F5 HFE Disease疾病类型: Mutations突变: 20009404T>C CYS282TYR HIS63ASPKaryotypes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
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