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 |
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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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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 |
4 |
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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 |
COL1A2 |
| Chromosomal Location |
7q21.3 |
| Allelic Variant 1 |
120160.0008; OSTEOGENESIS IMPERFECTA, TYPE II |
| Identified Mutation |
GLY907ASP; In an infant with a lethal variety of OI, Baldwin et al [J. Biol. Chem. 264: 3002 (1989)] found a G-to-A change that converted glycine-907- to aspartic acid. The change resulted in decreased thermal stability of type I collagen synthesized by the patient's fibroblasts. |
| Remarks |
Line JIMM-69; about half of pro-a chains are post-translationally overmodified & have a decreased thermal stability; a2 (I) chain has a single base substitution of A for G that converted an Asp for a Gly at amino position 907 [Gly907Asp (G907D)]; negative family history |
| Baldwin CT, Constantinou CD, Dumars KW, Prockop DJ, A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix. J Biol Chem264:3002-6 1989 |
| PubMed ID: 2914942 |
| Passage Frozen |
4 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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