NA25504
DNA from Fibroblast
Description:
MICROCEPHALY WITH CHORIORETINOPATHY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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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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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Mennonite
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Country of Origin
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USA
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Family Member
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2
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Family History
|
Y
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Relation to Proband
|
father
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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 |
8.44 |
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TUBGCP6 |
| Chromosomal Location |
22q13.33 |
| Allelic Variant 1 |
p.Ter1820Gly; MICROCEPHALY WITH CHORIORETINOPATHY |
| Identified Mutation |
c.5458T>G |
| Remarks |
Unaffected carrier; heterozyogous mutation TUBGCP6 c.5458T>G; father of affected daughter (GM25502, fibroblast) and affected son (GM25503, fibroblast). |
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