NA07792
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 |
50 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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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;20)(p11.1;p11.1).arr(1-22,X)x2
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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 |
2 |
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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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| Cytogenetics |
Chromosome 20: TRANSLOCATION Breakpoint 20cen t(X;20)20cen |
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Chromosome X: TRANSLOCATION Breakpoint Xcen t(X;20)Xcen |
| Remarks |
Mental retardation, seizures, & dysmorphic features; parents both have normal karyotypes; normal X is late replicating |
| 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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| Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, et al, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X- linked agammaglobulinemia. Cell72:279-90 1993 |
| PubMed ID: 8425221 |
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| Lafreniere RG, Brown CJ, Powers VE, Carrel L, Davies KE, Barker DF, Willard HF, Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics11:352-63 1991 |
| PubMed ID: 1685139 |
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| Mohandas T, Sparkes RS, Suh EJ, Hershfield MS, Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20. Hum Genet66:292-5 1984 |
| PubMed ID: 6586634 |
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| Mohandas T, Sparkes RS, Passage MB, Sparkes MC, Miles JH, Kaback MM, Regional mapping of ADA and ITP on human chromosome 20: cytogenetic and somatic cell studies in an X/20 translocation. Cytogenet Cell Genet26:28-35 1980 |
| PubMed ID: 7371431 |
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| Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC, Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci U S A76:5779-83 1979 |
| PubMed ID: 293682 |
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