GM20482
LCL from B-Lymphocyte
Description:
HEMOGLOBIN--BETA LOCUS; HBB
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
Black/African American
|
|
Family Member
|
3
|
|
Relation to Proband
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically unaffected; beta-thalassemia trait; hypertension; fibromyalgia; high cholesterol; arthritis; hemoglobin electrophoresis results: HbA = 89%, HbA2 = 5.9%, HbF = 4.2%, HbS = 0%; hemoglobin = 13.1 g/dl; MCV = 67.2; affected children are GM20480 and GM20481.
|
| Gene Cards |
HBB |
| Gene Ontology |
GO:0005344 oxygen transporter activity |
|
GO:0005833 hemoglobin complex |
|
GO:0006810 transport |
|
GO:0015671 oxygen transport |
| NCBI Gene |
Gene ID:3043 |
| NCBI GTR |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
| OMIM |
141900 HEMOGLOBIN--BETA LOCUS; HBB |
| Omim Description |
BETA-THALASSEMIAS, INCLUDED |
| |
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, IRISH OR WEATHERALL TYPE, INCLUDED |
| |
ERYTHREMIA, BETA-GLOBIN TYPE, INCLUDED |
| |
HEINZ BODY ANEMIAS, BETA-GLOBIN TYPE, INCLUDED |
| |
HEMOGLOBIN--BETA LOCUS; HBBSICKLE CELL ANEMIA, INCLUDED |
| |
METHEMOGLOBINEMIA, BETA-GLOBIN TYPE, INCLUDED |
| 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 |
- |
|
|