NA00144
DNA from Fibroblast
Description:
TRISOMY 21
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
| 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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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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ISCN
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45,XX,der(6)(6qter>6p25::21q11>21qter),-21[30]/46,XX,der(6)(6qter>6p25::21q11>21qter)[14]/46,XX,der(6)(6qter>6p25::21q11>21qter),der(21)(21pter>q22.3::7q22.3>7qter)[3]/46,XX,der(6)(6qter>6p25::21q11>21qter),add(21)(pter>q22.3:?)[3]
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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 |
9 |
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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 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21pter>21q11 |
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Chromosome 6: DERIVATIVE CHROMOSOME Aneuploid Segment (-)6pter>6p25 |
| Remarks |
13% of cells found to be balanced in passage 1 after recovery; these tend to increase with passage in culture; clinical features of Down syndrome; 3 male sibs have balanced translocations |
| Lafreniere RG, Brown CJ, Powers VE, Carrel L, Davies KE, Barker DF, Willard HF, Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics11:352-63 1991 |
| PubMed ID: 1685139 |
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| Barker PE, Rabin M, Watson M, Breg WR, Ruddle FH, Verma IM, Human c-fos oncogene mapped within chromosomal region 14q21----q31. Proc Natl Acad Sci U S A81:5826-30 1984 |
| PubMed ID: 6091112 |
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| Lidksy AS, Robson KJ, Thirumalachary C, Barker PE, Ruddle FH, Woo SL, The PKU locus in man is on chromosome 12. Am J Hum Genet36:527-33 1984 |
| PubMed ID: 6547271 |
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| Maurer BJ, Barker PE, Masters JN, Ruddle FH, Attardi G, Human dihydrofolate reductase gene is located in chromosome 5 and is unlinked to the related pseudogenes. Proc Natl Acad Sci U S A81:1484-8 1984 |
| PubMed ID: 6584893 |
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| Shulman LM, Barker PE, Hart JT, Messer Peters PG, Ruddle FH, Assignment of low-molecular-weight human (2', 5')A synthetase to chromosome 11. Somat Cell Mol Genet10:247-57 1984 |
| PubMed ID: 6585970 |
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| Kamarck ME, Macyko CA, Cunningham AC, Ruddle FH, The gene coding the human S11 surface antigens maps between the loci for HPRT and G6PD on the X-chromosome. Exp Cell Res149:325-34 1983 |
| PubMed ID: 6685651 |
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| Lubiniecki AS, Blattner WA, Martin GM, Fialkow PJ, Dosik H, Eatherly C, Fraumeni JF Jr, SV40 T-antigen expression in cultured fibroblasts from patients with Down syndrome and their parents. Am J Hum Genet31:469-77 1979 |
| PubMed ID: 225951 |
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| Dorman BP, Shimizu N, Ruddle FH, Genetic analysis of the human cell surface: antigenic marker for the human X chromosome in human-mouse hybrids. Proc Natl Acad Sci U S A75:2363-7 1978 |
| PubMed ID: 353811 |
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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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| Borgaonkar DS, Greene AE, Coriell LL, A (6;21) translocation, unbalanced, 46 chromosomes. Repository identification no. GM-144. Cytogenet Cell Genet13:403-5 1974 |
| PubMed ID: 4139000 |
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| Borgaonkar DS, Bias WB, Chase GA, Sadasivan G, Herr HM, Golomb HM, Bahr GF, Kunkel LM, Identification of a C6-G21 translocation chromosome by the Q-M and Giemsa banding techniques in a patient with Down's syndrome, with possible assignment of Gm locus. Clin Genet4:53-7 1973 |
| PubMed ID: 4120631 |
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