NA10796
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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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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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 |
| |
| 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; skin 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. |
| Hong R1, Chandola U1, Zhang LF2., Cat-D: a targeted sequencing method for the simultaneous detection of small DNA mutations and large DNA deletions with flexible boundaries. Sci Rep7(1):15701 2017 |
| PubMed ID: 29146914 |
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