NA00098
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| 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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,der(21)(21qter> 21p12::4p11>4pter)mat
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21pter>21p12 |
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Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (+)4pter>4p11 |
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Chromosome 4: DERIVATIVE CHROMOSOME Trisomic Segment 4pter>4p11 |
| Remarks |
Multiple congenital anomalies |
| Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983 |
| PubMed ID: 6350155 |
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| Schmutz, Suggested assignment of peptidase S(PEPS ) to 4p12>q12 by exclusion using gene dosage. Cytogenet Cell Genet32:315 (1982):134-8 1982 |
| PubMed ID: 6350155 |
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| Tan YH, Greene AE, Subregional localization of the gene(s) governing the human interferon induced antiviral state in man. J Gen Virol32:153-5 1976 |
| PubMed ID: 182912 |
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| Seabright M, Miller RC, Greene AE, Coriell LL, A (4;21) translocation, unbalanced, 46 chromosomes. Repository identification No. GM-98. Cytogenet Cell Genet14:152-3 1975 |
| PubMed ID: 1149496 |
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