Description:
TRISOMY 21
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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 |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
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47,XX,+21.arr[hg19]21p11.2q22.3(10,736,858-48,096,945)x3
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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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|
PDL at Freeze |
6.41 |
Passage Frozen |
5 |
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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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TUMOR NECROSIS FACTOR |
Rubin et al (Cancer Res 48:6006-6010,1988) reported that these fibroblasts are resistant to the antiproliferative effect of TNF yet possess receptors for TNF. |
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Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
Remarks |
Clinical features of Down syndrome |
Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019 |
PubMed ID: 31747614 |
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Argellati F, Massone S, d'Abramo C, Marinari UM, Pronzato MA, Domenicotti C, Ricciarelli R, Evidence against the overexpression of APP in Down syndrome IUBMB life58:103-6 2006 |
PubMed ID: 16608822 |
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Parshad RP, Sanford KK, Price FM, Melnick LK, Nee LE, Schapiro MB, Tarone RE, Robbins JH, Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture. Proc Natl Acad Sci U S A93:5146-50 1996 |
PubMed ID: 8643543 |
|
Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ, Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family. Brain Res Mol Brain Res28(2):319-37 1995 |
PubMed ID: 7723630 |
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Sanford KK, Parshad R, Price FM, Tarone RE, Schapiro MB, X-ray-induced chromatid damage in cells from Down syndrome and Alzheimer disease patients in relation to DNA repair and cancer proneness. Cancer Genet Cytogenet70:25-30 1993 |
PubMed ID: 8221609 |
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Rubin BY, Anderson SL, Hellermann GR, Richardson NK, Lunn RM, Valinsky JE, The development of antibody to the interferon-induced indoleamine 2,3- dioxygenase and the study of the regulation of its synthesis. J Interferon Res8:691-702 1988 |
PubMed ID: 2466915 |
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Rubin BY, Anderson SL, Lunn RM, Hellermann GR, Richardson NK, Smith LJ, Production of a monoclonal antibody directed against an interferon- induced 56,000-dalton protein and its use in the study of this protein. J Virol62:1875-80 1988 |
PubMed ID: 2452894 |
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Rubin BY, Anderson SL, Lunn RM, Richardson NK, Hellermann GR, Smith LJ, Old LJ, Tumor necrosis factor and IFN induce a common set of proteins. J Immunol141:1180-4 1988 |
PubMed ID: 2456344 |
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Rubin BY, Smith LJ, Hellermann GR, Lunn RM, Richardson NK, Anderson SL, Correlation between the anticellular and DNA fragmenting activities of tumor necrosis factor. Cancer Res48:6006-10 1988 |
PubMed ID: 3167851 |
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Ulker N, Zhang X, Samuel CE, Mechanism of interferon action. I. Characterization of a 54-kDa protein induced by gamma interferon with properties similar to a cytoskeletal component. J Biol Chem262:16798-803 1987 |
PubMed ID: 3119591 |
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Sehgal PB, Zilberstein A, Ruggieri RM, May LT, Ferguson-Smith A, Slate DL, Revel M, Ruddle FH, Human chromosome 7 carries the beta 2 interferon gene. Proc Natl Acad Sci U S A83:5219-22 1986 |
PubMed ID: 3014537 |
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Buchmuller Y, Weiser WY, Remold HG, Partial purification and characterization of a human lymphokine which induces antileishmanial activity in mouse macrophages. Cell Immunol90:242-50 1985 |
PubMed ID: 3881189 |
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Crosti N, Bajer J, Serra A, Rigo A, Scarpa M, Viglino P, Coordinate expression of MnSOD and CuZnSOD in human fibroblasts. Exp Cell Res160:396-402 1985 |
PubMed ID: 2931296 |
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Crosti N, Bajer J, Serra A, Rigo A, Scarpa M, Viglino P, Coordinate expression of Mn-containing superoxide dismutase and Cu,Zn- containing superoxide dismutase in human fibroblasts with trisomy 21. J Cell Sci79:95-103 1985 |
PubMed ID: 2939098 |
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Weiser WY, Remold HG, David JR, Generation of human hybridomas producing migration inhibitory factor (MIF) and of murine hybridomas secreting monoclonal antibodies to human MIF. Cell Immunol90:167-78 1985 |
PubMed ID: 3881187 |
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Graham GJ, Hall TJ, Cummings MR, Isolation of repetitive DNA sequences from human chromosome 21. Am J Hum Genet36:25-35 1984 |
PubMed ID: 6695923 |
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Skovby F, Krassikoff N, Francke U, Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Hum Genet65:291-4 1984 |
PubMed ID: 6583157 |
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Weiser WY, Remold HG, Block LH, David JR, Dissociation of human interferon-gamma-like activity from migration- inhibition factor. Cell Immunol88:109-22 1984 |
PubMed ID: 6434188 |
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Samuel CE, Knutson GS, Mechanism of interferon action: human leukocyte and immune interferons regulate the expression of different genes and induce different antiviral states in human amnion U cells. Virology130:474-84 1983 |
PubMed ID: 6316641 |
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Sorbi S, Bird ED, Blass JP, Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain. Ann Neurol13:72-8 1983 |
PubMed ID: 6219611 |
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Van Keuren, Proteins affected by chromosome 21 and ageing in vitro (from Gene Expression in Normal and Transformed Cells, Plenum Pub Corp; Celis & Bravo, Eds) "Gene Exp in Norm & Trans Cells"1983,pp349:72-8 1983 |
PubMed ID: 6219611 |
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Williamson BD, Carswell EA, Rubin BY, Prendergast JS, Old LJ, Human tumor necrosis factor produced by human B-cell lines: synergistic cytotoxic interaction with human interferon. Proc Natl Acad Sci U S A80:5397-401 1983 |
PubMed ID: 6193516 |
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Fitzgerald PA, von Wussow P, Lopez C, Role of interferon in natural kill of HSV-1-infected fibroblasts. J Immunol129:819-23 1982 |
PubMed ID: 6177785 |
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Samuel CE, Knutson GS, Masters PS, Mechanism of interferon action: ability of cloned human type-alpha interferons to induce protein phosphorylation and inhibit virus replication is specified by the host cell rather than the interferon subspecies. J Interferon Res2:563-74 1982 |
PubMed ID: 6815285 |
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Sehgal PB, May LT, LaForge KS, Inouye M, Unusually long mRNA species coding for human alpha and beta interferons. Proc Natl Acad Sci U S A79:6932-6 1982 |
PubMed ID: 6184718 |
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Sorbi S, Blass JP, Spectrophotometric measurement of pyruvate dehydrogenase complex activity in cultured human fibroblasts. J Biochem Biophys Methods5:169-76 1981 |
PubMed ID: 7299037 |
Passage Frozen |
5 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
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 |
Supplement |
- |
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