NA00088
DNA from Fibroblast
Description:
TURNER SYNDROME
ISO X 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,idic(X)(p11.2).arr Xp22.33p11.21(108464-56474519)x1,Xp11.21q28(56,486,208-154,887,040)x3,5p15.2p15.1(14450134-15493849)x3,12p11.1(33420095-34694301)x3
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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 |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome X: ISOCHROMOSOME Aneuploid Segment (+)Xq10>Xqter |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (-)Xpter>Xp10 |
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Chromosome X: ISOCHROMOSOME Trisomic Segment Xq10>Xqter |
| Remarks |
Buccal smear=18% sex chromatin positive; Turner's syndrome |
| 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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| Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF, Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet58(1):154-60 1996 |
| PubMed ID: 8554051 |
| |
| Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE, New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet38:149-58 1986 |
| PubMed ID: 3004207 |
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| Riddell DC, Wang HS, Beckett J, Chan A, Holden JJ, Mulligan LM, Phillips MA, Simpson NE, Wrogemann K, Hamerton JL, et al, Regional localization of 18 human X-linked DNA sequences. Cytogenet Cell Genet42:123-8 1986 |
| PubMed ID: 3460742 |
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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 |
| |
| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, An X,isochromosome X (long arm), 46 chromosomes. Human Genetic Mutant Cell Repository, Camden, N.J., identification No. GM-88. Cytogenet Cell Genet12:372-3 1973 |
| PubMed ID: 4780774 |
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