Description:
BETA-THALASSEMIA
HEMOGLOBIN--BETA LOCUS; HBB
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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 |
| 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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Ethnicity
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PALESTINIAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/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 LINE assay |
| |
| Remarks |
Clinically affected; beta-thalassemia intermedia; diagnosed at birth; transfusion dependent; iron overload; extramedullary paraspinal hematopoiesis; splenectomy at age 16 years; cholecystectomy; testicular atrophy; hypogonadism; asthma; osteoporosis; adrenal insufficiency; hypothyroidism; hemoglobin electrophoresis results: HbA = 72.2%, HbA2 = 3.8%, HbF = 8%, HbS = 4.3%; hemoglobin = 8.2 g/dl; MCV = 74.8.
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| Smullen M, Olson MN, Reichert JM, Dawes P, Murray LF, Baer CE, Wang Q, Readhead B, Church GM, Lim ET, Chan Y, Reliable multiplex generation of pooled induced pluripotent stem cells Cell reports methods3:100570 2022 |
| PubMed ID: 37751688 |
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