NA00735
DNA from Fibroblast
Description:
TURNER SYNDROME
ISODICENTRIC CHROMOSOME
INVERTED 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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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,idic(X)(qter>p11.2::p11.2>qter),inv(2) (pter>p11::q13>p11::q13>qter),t(3;9)(9pter>9p22::3p21>3qter;3pter>3p21::9p22>9qter)[3]/46,X,idic(X)(qter>p11.2::p11.2>qter),inv(2)(pter>p11::q13>p11::q13>qter)[7]
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (+)Xp11>Xqter |
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Chromosome X: DICENTRIC CHROMOSOME Aneuploid Segment (-)Xpter>Xp11 |
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Chromosome X: DICENTRIC CHROMOSOME Trisomic Segment (+)Xp11>Xqter |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (+)Xp11>Xqter |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (-)Xpter>Xp11 |
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Chromosome X: ISOCHROMOSOME Trisomic Segment (+)Xp11>Xqter |
| Markaki Y, Gan Chong J, Wang Y, Jacobson EC, Luong C, Tan SYX, Jachowicz JW, Strehle M, Maestrini D, Banerjee AK, Mistry BA, Dror I, Dossin F, Schöneberg J, Heard E, Guttman M, Chou T, Plath K, Xist nucleates local protein gradients to propagate silencing across the X chromosome Cell184:6174-6192.e32 2020 |
| PubMed ID: 34813726 |
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| Chadwick BP, Characterization of chromatin at structurally abnormal inactive X chromosomes reveals potential evidence of a rare hybrid active and inactive isodicentric X chromosome Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology184:6174-6192.e32 2019 |
| PubMed ID: 31776830 |
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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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| 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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| Cohen MM, Rosenmann A, Hacham-Zadeh S, Dahan S, Dicentric X-isochromosome (Xqi dic) and pericentric inversion of No. 2 [inv(2) (p15 q21)] in a patient with gonadal dysgenesis. Clin Genet8:11-7 1975 |
| PubMed ID: 1149316 |
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