GM14712
LCL from B-Lymphocyte
Description:
HEMOCHROMATOSIS; HFE
HOMEOSTATIC IRON REGULATOR; HFE
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Metal Metabolism |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
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. |
|
Gene |
HFE |
Chromosomal Location |
6p22.2 |
Allelic Variant 2 |
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 |
Diagnosed at age 64; serum ferritin 471 ng/ml; serum iron 296 mcg/dl; transferrin saturation 94%; liver biopsy revealed iron overload, but no fibrosis; homozygous for the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not Inactivated |
Substrate |
None specified |
Subcultivation Method |
dilution - add fresh medium |
Supplement |
- |
|