NA03913
DNA from Fibroblast
Description:
ROBERTS SYNDROME; RBS
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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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Ethnicity
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FRENCH CANADIAN
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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 |
16 |
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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 7: ANEUPLOID Aneuploid Segment (+)7pter>7qter |
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Chromosome 7: ANEUPLOID Trisomic Segment 7pter>7qter |
| Remarks |
French Canadian; absent radii and short ulnae; microphthalmia; corneal opacity; chromatid breaks and gaps; centromere splitting and puffing; 46% 46,XY/ 54% 47, XY,+7; 48% tetraploid at passage 13 |
| McDaniel LD, Tomkins DJ, Stanbridge EJ, Somerville MJ, Friedberg EC, Schultz RA, Mapping of a single locus capable of complementing the defective heterochromatin phenotype of roberts syndrome cells. Am J Hum Genet77(1):132-9 2005 |
| PubMed ID: 15887093 |
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| McDaniel LD, Prueitt R, Probst LC, Wilson KS, Tomkins D, Wilson GN, Schultz RA, Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group. Am J Med Genet93(3):223-9 2000 |
| PubMed ID: 10925387 |
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| Ouellette MM, McDaniel LD, Wright WE, Shay JW, Schultz RA, The establishment of telomerase-immortalized cell lines representing human
chromosome instability syndromes. Hum Mol Genet9(3):403-11 2000 |
| PubMed ID: 10655550 |
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| Davis K, Tomkins DJ, Rainbow AJ, Roberts syndrome fibroblasts showing cisplatin hypersensitivity have normal host cell reactivation of cisplatin-treated adenovirus and normal capacity of cisplatin-treated cells for adenovirus DNA synthesis. Somat Cell Mol Genet22:393-402 1996 |
| PubMed ID: 9039848 |
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| Tomkins DJ, Sisken JE, Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics? Am J Hum Genet36:1332-40 1984 |
| PubMed ID: 6517054 |
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| Tomkins D, Hunter A, Roberts M, Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet4:17-26 1979 |
| PubMed ID: 495649 |
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