GM14641 HEMOCHROMATOSIS; HFE | FACTOR V DEFICIENCY B-Lymphocyte Cell Line NTCC®细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM14641 HEMOCHROMATOSIS; HFE | FACTOR V DEFICIENCY B-Lymphocyte Cell Line
血色病； HFE | V因子缺乏细胞株
Description描述：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)]
Category分类：B-Lymphocyte
ID编号:NTCC®-GM14641
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race: White
Age年龄:47 YR
Gender性别:Female
Cell Type细胞类型: HEMOCHROMATOSIS; HFE | FACTOR V DEFICIENCY
Affected State:No
Product:LCL
Gene:F5 HFE
Mutations突变:20009404T>C CYS282TYR HIS63ASP
Ethnicity:
Family:1780
Relationship:mother
Karyotype:
Tissue Type组织来源:Blood
Complete Growth Medium完全培养基: BioVector® Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
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
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