NA02962
DNA from Fibroblast
Description:
OSTEOGENESIS IMPERFECTA, TYPE II; OI2
COLLAGEN, TYPE I, ALPHA-2; COL1A2
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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 |
10 µg |
| 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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Gene |
COL1A2 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 1 |
120160.0018; OSTEOGENESIS IMPERFECTA, TYPE II |
| Identified Mutation |
EX28DEL; In a case of Type II osteogenesis imperfecta (166210), Tromp and Prockop [Proc. Natl. Acad. Sci. USA 85: 5254 (1988)] found that the previously demonstrated shortened pro-alpha-2 chain of type I collagen resulted from deletion of exon 28 which in turn resulted from substitution of G for A at the 3-prime end of intron 27. |
| Remarks |
"Broad boned"; normal fibroblast alkaline phosphatase activity; neonatal lethal form; synthesizes shortened pro alpha 2(I) chains; compound heterozygote; mRNA of 1 allele shows deletion in exon 28 (amino acids 448 to 465) |
| de Wett W, Sippola M, Tromp G, Prockop D, Chu ML, Ramirez F, Use of R-loop mapping for the assessment of human collagen mutations. J Biol Chem261:3857-62 1986 |
| PubMed ID: 3949794 |
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| Brinker JM, Gudas LJ, Loidl HR, Wang SY, Rosenbloom J, Kefalides NA, Myers JC, Restricted homology between human alpha 1 type IV and other procollagen chains. Proc Natl Acad Sci U S A82:3649-53 1985 |
| PubMed ID: 2582422 |
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| de Wet WJ, Chu ML, Prockop DJ, The mRNAs for the pro-alpha 1(I) and pro-alpha 2(I) chains of type I procollagen are translated at the same rate in normal human fibroblasts and in fibroblasts from two variants of osteogenesis imperfecta with altered steady state ratios of the two mRNAs. J Biol Chem258:14385-9 1983 |
| PubMed ID: 6689020 |
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