GM14654
LCL from B-Lymphocyte
Description:
HEMOCHROMATOSIS; HFE
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases |
Class |
Disorders of Metal Metabolism |
Alternate IDs |
GM18067 [HEMOCHROMATOSIS; HFE] |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Molecular characterization after cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
Clinically normal; mother of 3 affected sons; affected son is GM14653; 1 allele carries the Cys282Tyr mutation (C282Y) of the HFE (HLA-H) gene, second allele is negative for the C282Y and H63D (His63Asp) mutations |
Split Ratio |
1:4 |
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 |
- |
|
|