NA03037
DNA from Fibroblast
Description:
ALPHA-THALASSEMIA
HEMOGLOBIN--ALPHA LOCUS 2; HBA2
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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 |
| Alternate IDs |
GM17082 [ALPHA-THALASSEMIA] |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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|
Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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Asian
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Ethnicity
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VIETNAMESE
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|
Family Member
|
1
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Relation to Proband
|
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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|
| PDL at Freeze |
3.54 |
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Alpha-thalassemia; fetal hydrops; Vietnamese; confirmed by cDNA hybridization and globin chain synthesis; skin fibroblast culture; same patient as GM03038; 46,XY |
| Ho SS, Chong SS, Koay ES, Chan YH, Sukumar P, Chiu LL, Wang W, Roy A, Rauff M, Su LL, Biswas A, Choolani M, Microsatellite Markers within --SEA Breakpoints for Prenatal Diagnosis of HbBarts Hydrops Fetalis Clinical chemistry53:173-9 2006 |
| PubMed ID: 17158194 |
| |
| Toomajian C, Kreitman M, Sequence variation and haplotype structure at the human HFE locus. Genetics161(4):1609-23 2002 |
| PubMed ID: 12196404 |
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