Description:
YORUBA IN IBADAN, NIGERIA
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Repository
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NHGRI Sample Repository for Human Genetic Research
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| Subcollection |
NHGRI Sample Repository for Human Genetic Research |
| 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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Country of Origin
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NIGERIA
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Family Member
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2
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Relation to Proband
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mother
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
CYP3A5 |
| Chromosomal Location |
7q22.1 |
| Allelic Variant 1 |
K208K; DECREASE IN CYP3A5 PROTEIN AND ACTIVITY |
| Identified Mutation |
267871G>A |
| Remarks |
Yoruba from Ibadan, Nigeria; all four grandparents are Yoruba |
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| PubMed ID: 33988505 |
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| PubMed ID: 32601472 |
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| PubMed ID: 30297863 |
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