Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
Class Other Disorders of Known Biochemistry
Cell Type Fibroblast
Transformant Untransformed
Race Black
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Formerly GM00258; shows increased sensitivity to interferon; Down syndrome phenotype; hyper-responsive to B-adrenergic stimulation
Passage Frozen 9
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
Remark Formerly GM00258; shows increased sensitivity to interferon; Down syndrome phenotype; hyper-responsive to B-adrenergic stimulation
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
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
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
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
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
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
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
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
Yap WH, Teo TS, Tan YH, An early event in the interferon-induced transmembrane signaling process. Science234:355-8 1986
PubMed ID: 2429366
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
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
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,pp349:5662-6 1983
PubMed ID: 6091102
Sorbi S, Bird ED, Blass JP, Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain. Ann Neurol13:72-8 1983
PubMed ID: 6219611
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
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
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
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
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
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
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
Rubinstein S, Familletti PC, Pestka S, Convenient assay for interferons. J Virol37:755-8 1981
PubMed ID: 6163873
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 355-369:755-8 1981
PubMed ID: 6163873
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
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
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
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
Havell EA, Antibody neutralization studies of the antiviral activities of human leukocyte interferon on different cells. Arch Virol65:229-36 1980
PubMed ID: 6158304
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
Brown, Two-dimensional analysis of radiolabeled proteins in cultured Huntington's Disease fibroblasts. Adv Neurol23:361 (1979):1345-9 1979
PubMed ID: 220536
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
No data is available
Passage Frozen 9
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA