NA16964
DNA from Fibroblast
Description:
OSTEOGENESIS IMPERFECTA, TYPE IV; OI4
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 |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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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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AMISH
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Family Member
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1
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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 |
1 |
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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 |
G610C; OSTEOGENESIS IMPERFECTA, TYPE IV |
| Identified Mutation |
GLY610CYS |
| Remarks |
Clinically affected; see GM16963 Lymphoid; mild kyphosis; blue sclerae, edent dentition; abnormal joint flexibility in elbow; elevated alkaline phosphatase; bone density score for spine and hip (neck) indicates osteoporosis; history of eight fractures; donor is heterozygous for the founder mutation which is a missense mutation resulting from a substitution of G>T at nucleotide 2237 in codon 610 in exon 35 of the COL1A2 gene [Gly610Cys (G610C)] |
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