NA00137
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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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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ISCN
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45,XY,der(4)t(4;21)(p16;q21),-21[20]
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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 |
5.2 |
| Passage Frozen |
12 |
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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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| 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,XY,-4,-21,+der(4),t(4;21)(p15;q21). |
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| Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (-)21pter>21q21 |
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Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (-)21pter>21q21 |
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Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4pter>4p16 |
| Remarks |
60% of normal superoxide dismutase-1 activity; multiple malformations & severe psychomotor retardation; 70% of normal SOD-1 RNA in fibroblasts; gene dosage studies suggest a translocation rather than a monosomy for chromosome #21 |
| 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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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Genomic analysis of partial 21q monosomies with variable phenotypes European journal of human genetics : EJHG19:235-8 2010 |
| PubMed ID: 20823914 |
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| 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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| Hards RG, Patterson D, Variation of glycinamide ribonucleotide synthetase levels during in vitro aging of human fibroblasts: implications for gene dosage studies. Mech Ageing Dev36:65-70 1986 |
| PubMed ID: 3762234 |
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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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| Sherman L, Dafni N, Lieman-Hurwitz J, Groner Y, Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA. Proc Natl Acad Sci U S A80:5465-9 1983 |
| PubMed ID: 6577438 |
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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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| Kurnit DM, Down syndrome: gene dosage at the transcriptional level in skin fibroblasts. Proc Natl Acad Sci U S A76:2372-5 1979 |
| PubMed ID: 156366 |
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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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| Meager A, Graves HE, Shuttleworth J, Zucker N, Interferon production: variation in yields from human cell lines. Infect Immun25:658-63 1979 |
| PubMed ID: 489124 |
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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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| Davis JG, Jenkins EC, Klinger HP, Weed RG, A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-. Cytogenet Cell Genet17:65-77 1976 |
| PubMed ID: 975937 |
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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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