HM00705
High Molecular Weight 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
DGAP
dbGaP |
| Estimated Quantity |
5 µg - 20 µg |
| Product Specifications |
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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High Molecular Weight DNA from Fibroblast
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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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46,X,t(X;9)(Xpter>Xq12::9p24>9pter; 9qter>9p24::Xq12>Xqter)
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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 |
16 |
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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 |
| |
| 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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| Cytogenetics |
Chromosome 9: TRANSLOCATION Breakpoint 9p24 t(X;9)9p24 |
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Chromosome X: TRANSLOCATION Breakpoint Xq12 t(X;9)Xq12 |
| Remarks |
Patient with failure to thrive; culture is slow growing |
| 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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| Carrel L, Willard HF, Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A96:7364-9 1999 |
| PubMed ID: 10377420 |
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| Vargas GA, Fantino E, George-Nascimento C, Gargus JJ, Haigler HT, Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice. J Clin Invest97:2426-32 1996 |
| PubMed ID: 8647934 |
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| Islam MQ, Islam K, Levan G, Horvath G, Monochromosome transfers to Syrian hamster BHK cells via microcell fusion provide functional evidence for suppressor genes on human chromosome 9 both for anchorage independence and for tumorigenicity. Genes Chromosomes Cancer13:115-125 1995 |
| PubMed ID: 7542906 |
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| Rupert JL, Brown CJ, Willard HF, Direct detection of non-random X chromosome inactivation by use of a transcribed polymorphism in the XIST gene. Eur J Hum Genet3:333-43 1995 |
| PubMed ID: 8825575 |
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| Thomas NS, Chelly J, Zonana J, Davies KJ, Morgan S, Gault J, Rack KA, Buckle VJ, Brockdorff N, Clarke A, et al, Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA). Hum Mol Genet2:1679-85 1993 |
| PubMed ID: 8268921 |
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| Lin, Assignment of the gene for uridine diphosphate galactose-4-epimerase to human chromosome 1 by human-mouse somatic cell hybridization. Somatic Cell Genet5:363 (1979):1679-85 1979 |
| PubMed ID: 8268921 |
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| Meager A, Graves H, Burke DC, Swallow DM, Involvement of a gene on chromosome 9 in human fibroblast interferon production. Nature280:493-5 1979 |
| PubMed ID: 460428 |
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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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| Klinger HP, Baim AS, Eun CK, Shows TB, Ruddle FH, Human chromosomes which affect tumorigenicity in hybrids of diploid human with heteroploid human or rodent cells. Cytogenet Cell Genet22:245-9 1978 |
| PubMed ID: 752482 |
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| Klinger HP, Eun CK, Mass production of human x rodent cell hybrids in the nude mouse-- extent of chromosome and gene marker stability. Cytogenet Cell Genet20:373-83 1978 |
| PubMed ID: 648188 |
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