NA02504
DNA from Fibroblast
Description:
TRISOMY 21
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 |
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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Black/African American
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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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Karyotypic analysis after cell line submission to CCR
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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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| Remarks |
Formerly GM00258; shows increased sensitivity to interferon; Down syndrome phenotype; hyper-responsive to B-adrenergic stimulation |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020 |
| PubMed ID: 34330281 |
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| Weick JP, Held DL, Bonadurer GF, Doers ME, Liu Y, Maguire C, Clark A, Knackert JA, Molinarolo K, Musser M, Yao L, Yin Y, Lu J, Zhang X, Zhang SC, Bhattacharyya A, Deficits in human trisomy 21 iPSCs and neurons Proceedings of the National Academy of Sciences of the United States of America110:9962-7 2013 |
| PubMed ID: 23716668 |
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| Prandini P, Deutsch S, Lyle R, Gagnebin M, Vivier CD, Delorenzi M, Gehrig C, Descombes P, Sherman S, Bricarelli FD, Baldo C, Novelli A, Dallapiccola B, Antonarakis SE, Natural gene-expression variation in down syndrome modulates the outcome of gene-dosage imbalance American journal of human genetics81:252-63 2007 |
| PubMed ID: 17668376 |
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| Vaughan JH, Valbracht JR, Nguyen MD, Handley HH, Smith RS, Patrick K, Rhodes GH, Epstein-Barr virus-induced autoimmune responses. I. Immunoglobulin M autoantibodies to proteins mimicking and not mimicking Epstein-Barr virus nuclear antigen-1. J Clin Invest95:1306-15 1995 |
| PubMed ID: 7533788 |
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| Zhong Z, Higaki J, Murakami K, Wang Y, Catalano R, Quon D, Cordell B, Secretion of beta-amyloid precursor protein involves multiple cleavage sites. J Biol Chem269:627-32 1994 |
| PubMed ID: 8276862 |
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| Nobori T, Hexdall LE, Carson DA, A polymorphic region defined by pCN2 (the 3' nontranslated region of N- ras) maps to chromosome 9cen-p12. Hum Genet87:433-7 1991 |
| PubMed ID: 1879830 |
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| Tang KF, Ts'o PO, Lesko SA, Production of interferon-beta upon induction with polyinosinic acid:polycytidylic acid during the cell cycle of human fibroblasts. Exp Cell Res181:432-41 1989 |
| PubMed ID: 2647497 |
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| Creasey AA, Yamamoto R, Vitt CR, A high molecular weight component of the human tumor necrosis factor receptor is associated with cytotoxicity. Proc Natl Acad Sci U S A84:3293-7 1987 |
| PubMed ID: 3033642 |
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| Geigert J, Ziegler DL, Panschar BM, Creasey AA, Vitt CR, Potency stability of recombinant (Serine-17) human interferon-beta. J Interferon Res7:203-11 1987 |
| PubMed ID: 3039014 |
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| Yap WH, Teo TS, Tan YH, An early event in the interferon-induced transmembrane signaling process. Science234:355-8 1986 |
| PubMed ID: 2429366 |
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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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| Mark DF, Lu SD, Creasey AA, Yamamoto R, Lin LS, Site-specific mutagenesis of the human fibroblast interferon gene. Proc Natl Acad Sci U S A81:5662-6 1984 |
| PubMed ID: 6091102 |
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| Maheshwari RK, Husain MM, Friedman RM, Low infectivity of vesicular stomatitis virus (VSV) particles released from interferon-treated cells is related to glycoprotein deficiency. Biochem Biophys Res Commun117:161-8 1983 |
| PubMed ID: 6318745 |
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| Raj NB, Pitha PM, Two levels of regulation of beta-interferon gene expression in human cells. Proc Natl Acad Sci U S A80:3923-7 1983 |
| PubMed ID: 6575385 |
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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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| Van Keuren ML, Merril CR, Goldman D, Protein variations associated with in vitro aging of human fibroblasts and quantitative limits on the error catastrophe hypothesis. J Gerontol38:645-52 1983 |
| PubMed ID: 6226730 |
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| Lieman-Hurwitz J, Dafni N, Lavie V, Groner Y, Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome. Proc Natl Acad Sci U S A79:2808-11 1982 |
| PubMed ID: 6211674 |
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| O'Malley JA, Nussbaum-Blumenson A, Sheedy D, Grossmayer BJ, Ozer H, Identification of the T cell subset that produces human gamma interferon. J Immunol128:2522-6 1982 |
| PubMed ID: 6176643 |
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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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| Van Keuren ML, Goldman D, Merril CR, Protein variations associated with Down's syndrome, chromosome 21, and Alzheimer's disease. Ann N Y Acad Sci396:55-67 1982 |
| PubMed ID: 6217777 |
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| Brown WT, Dutkowski R, Darlington GJ, Localization and quantitation of human superoxide dismutase using computerized 2-D gel electrophoresis. Biochem Biophys Res Commun102:675-81 1981 |
| PubMed ID: 7306178 |
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| McSwigan JD, Hanson DR, Lubiniecki A, Heston LL, Sheppard JR, Down syndrome fibroblasts are hyperresponsive to beta-adrenergic stimulation. Proc Natl Acad Sci U S A78:7670-3 1981 |
| PubMed ID: 6278485 |
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| Rubinstein S, Familletti PC, Pestka S, Convenient assay for interferons. J Virol37:755-8 1981 |
| PubMed ID: 6163873 |
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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 |
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| Van Keuren, A quantitative two-dimensional electrophoretic survey of proteins affected by chromosome 21 (from Electrophoresis '81, Walter de Gruyter & Co., Allen, Arnaud eds.) "Electrophoresis '81"1981, pp 355-369:169-76 1981 |
| PubMed ID: 7299037 |
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| Berger SL, Hitchcock MJ, Zoon KC, Birkenmeier CS, Friedman RM, Chang EH, Characterization of interferon messenger RNA synthesis in Namalva cells. J Biol Chem255:2955-61 1980 |
| PubMed ID: 7358718 |
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| Havell EA, Antibody neutralization studies of the antiviral activities of human leukocyte interferon on different cells. Arch Virol65:229-36 1980 |
| PubMed ID: 6158304 |
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| Brown, Two-dimensional analysis of radiolabeled proteins in cultured Huntington's Disease fibroblasts. Adv Neurol23:361 (1979):229-36 1979 |
| PubMed ID: 6158304 |
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| Cheeseman SH, Rubin RH, Stewart JA, Tolkoff-Rubin NE, Cosimi AB, Cantell K, Gilbert J, Winkle S, Herrin JT, Black PH, Russell PS, Hirsch MS, Controlled clinical trial of prophylactic human-leukocyte interferon in renal transplantation. Effects on cytomegalovirus and herpes simplex virus infections. N Engl J Med300:1345-9 1979 |
| PubMed ID: 220536 |
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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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