NA05747
DNA from Fibroblast
Description:
OSTEOGENESIS IMPERFECTA, TYPE I; OI1
COLLAGEN, TYPE I, ALPHA-1; COL1A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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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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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Gene |
COL1A1 |
| Chromosomal Location |
17q21.33 |
| Allelic Variant 1 |
; OSTEOGENESIS IMPERFECTA, TYPE I; OI1 |
| Identified Mutation |
c.1273G>A (p.Gly425Ser) |
| Remarks |
Colombian; blue sclerae; pliable skull; poor mineralization of skull & short, thick, ribbon-like poorly mineralized long bones; multiple fractures; normal serum phosphoethanolamine |
| Mackay K, Byers PH, Dalgleish R, An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. Hum Mol Genet2:1155-60 1993 |
| PubMed ID: 7691343 |
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