Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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45,XX,-21,t(21;?) {? is most likely the X chromosome}
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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 |
19 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 21 |
Gene dosage studies and subsequent karyotype analysis published by Dahl et al (Am J Hum Genet 43:502-510,1988) reported the karyotype of this cell culture to be 45,X,-X,-21,+der(X),t(X;21)(q26;q21). |
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| Remarks |
60% of norm superoxide dismutase-1; responds less than normal diploid fibroblast to B adrenergic stimulation; 12% cells show random chromosome loss; mental and physical retardation; cardiac anomalies; antimongoloid slant; low set ears; micrognathia |
| Dahl HH, Choo KH, Danks DM, Application of DNA-DNA hybridization of dual labeled probes to the detection of trisomy 21, monosomy 21, and sex determination. Am J Hum Genet43:502-10 1988 |
| PubMed ID: 2972200 |
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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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| Stambrook PJ, Dush MK, Trill JJ, Tischfield JA, Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants. Somat Cell Mol Genet10:359-67 1984 |
| PubMed ID: 6087472 |
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| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
| PubMed ID: 6093508 |
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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,pp349:954-64 1983 |
| PubMed ID: 6093508 |
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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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| Epstein CJ, McManus NH, Epstein LB, Branca AA, D'Alessandro SB, Baglioni C, Direct evidence that the gene product of the human chromosome 21 locus, IFRC, is the interferon-alpha receptor. Biochem Biophys Res Commun107:1060-6 1982 |
| PubMed ID: 6182879 |
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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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| 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 355-369:7670-3 1981 |
| PubMed ID: 6278485 |
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| Maroun LE, Interferon effect on ribosomal ribonucleic acid related to chromosome 21 ploidy. Biochem J179:221-5 1979 |
| PubMed ID: 475756 |
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| Feaster WW, Kwok LW, Epstein CJ, Dosage effects for superoxide dismutase-1 in nucleated cells aneuploid for chromosome 21. Am J Hum Genet29:563-70 1977 |
| PubMed ID: 145179 |
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| De Clercq E, Edy VG, Cassiman JJ, Chromosome 21 does not code for an interferon receptor. Nature264:249-51 1976 |
| PubMed ID: 187947 |
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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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| Halloran KH, Breg WR, Mahoney MJ, 21 monosomy in a retarded female infant. J Med Genet11:386-9 1974 |
| PubMed ID: 4443988 |
| Passage Frozen |
19 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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