GM20838
LCL from B-Lymphocyte
Description:
SICKLE CELL ANEMIA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
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B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
Black/African American
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
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|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically healthy; sickle cell trait; 2-3 episodes of epistaxis per week from age 8 to 11 years; type II diabetes diagnosed in adulthood; hemoglobin electrophoresis results: HbA = 61.4%, HbA2 = 3.8%, HbF = 0%, HbS = 34.8%; hemoglobin = 11.1 g/dl; MCV = 77.2.
|
| Chang MM, Natoli ME, Wilkinson AF, Tubman VN, Airewele GE, Richards-Kortum RR, A multiplexed, allele-specific recombinase polymerase amplification assay with lateral flow readout for sickle cell disease detection Lab on a chip24:4115-4127 2024 |
| PubMed ID: 39051493 |
| Split Ratio |
1:2 |
| 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 |
| Supplement |
- |
|
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