Description:
OSTEOGENESIS IMPERFECTA, TYPE II; OI2
COLLAGEN, TYPE I, ALPHA-1; COL1A1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Ethnicity
|
SWISS
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
10 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
COL1A1 |
| Chromosomal Location |
17q21.33 |
| Allelic Variant 1 |
120150.0018; OSTEOGENESIS IMPERFECTA, TYPE II |
| Identified Mutation |
GLY988CYS; Steinmann et al. (1984) reported the protein abnormality in a cell line established from a patient with OI type II. Cohn et al. (1986) characterized the mutation.
|
| Remarks |
Type II; mother has Marfan syn; infant died 30 min after birth; soft head; blue sclerae; short, bowed legs; low-set dysmorphic ears; broad, bowed long bones & beaded, wavy ribs; 46,XY; makes 1 normal & 1 mutant pro alpha 1(I) collagen chain |
| Cohn DH, Byers PH, Steinmann B, Gelinas RE, Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele Proceedings of the National Academy of Sciences of the United States of America83:6045-7 1986 |
| PubMed ID: 3016737 |
| |
| Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH, Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem259:11129-38 1984 |
| PubMed ID: 6469997 |
| Passage Frozen |
10 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|