NA10797
DNA from Fibroblast
Description:
ALPHA-THALASSEMIA
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
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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 |
10 µg |
| 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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Muscle
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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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FILIPINO
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Family Member
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1
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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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| Passage Frozen |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HBA1 |
| Chromosomal Location |
16pter-p13.3 |
| Allelic Variant 1 |
; ALPHA-THALASSEMIA TYPE 1 |
| Identified Mutation |
Fil Type Deletion |
| |
| Gene |
HBA1 |
| Chromosomal Location |
16pter-p13.3 |
| Allelic Variant 2 |
; ALPHA-THALASSEMIA TYPE 1 |
| Identified Mutation |
SEA Type Deletion |
| Remarks |
Filipino; muscle biopsy; hydrops fetalis; ambiguous genitalia; 46,XY in cultured amniotic fluid cells; alpha-1 thalassemia; mother, GM10798, has total Filipino del; father, GM10799 has Southeast Asian double alpha del; child is --FIL/--SEA. |
| Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W, Test development, optimization and validation of a WGS pipeline for genetic disorders BMC medical genomics16:74 2022 |
| PubMed ID: 37020281 |
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