Description:
APPARENTLY HEALTHY INDIVIDUAL
HEMOCHROMATOSIS; HFE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Apparently Healthy Collection |
| Class |
Disorders of the Nervous System |
| Alternate IDs |
GM17278 [APPARENTLY HEALTHY INDIVIDUAL] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Gene |
HFE |
| Chromosomal Location |
6p22.2 |
| Allelic Variant 1 |
613609.0001; HEMOCHROMATOSIS |
| Identified Mutation |
CYS282TYR; A missense mutation caused by a G-to-A transition at nucleotide position 845 results in a cysteine to tyrosine transition at codon position 282 [cys282tyr (C282Y)] in the HFE gene. |
| Remarks |
See GM07753 Fibroblast; 46,XY; 12% of cells show random chromosome loss/gain; donor subject is heterozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene |
| Bernacki SH, Beck JC, Muralidharan K, Schaefer FV, Shrimpton AE, Richie KL, Levin BC, Pont-Kingdon G, Stenzel TT., Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes. Clin Chem51(11):2156-9 2005 |
| PubMed ID: 16244288 |
| |
| Sotamaa K, Liyanarachchi S, Mecklin JP, Järvinen H, Aaltonen LA, Peltomäki P, de la Chapelle A, p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome Clinical cancer research : an official journal of the American Association for Cancer Research11:6840-4 2005 |
| PubMed ID: 16203772 |
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