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NA00088 DNA from Fibroblast

Description:

TURNER SYNDROME
ISO X CHROMOSOME

Affected:

Yes

Sex:

Female

Age:

19 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
dbGaP
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 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
Species Homo sapiens
Common Name Human
Remarks Buccal smear=18% sex chromatin positive; Turner's syndrome

Characterizations

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Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome X: ISOCHROMOSOME Aneuploid Segment (+)Xq10>Xqter
Chromosome X: ISOCHROMOSOME Aneuploid Segment (-)Xpter>Xp10
Chromosome X: ISOCHROMOSOME Trisomic Segment Xq10>Xqter

Phenotypic Data

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Remarks Buccal smear=18% sex chromatin positive; Turner's syndrome

Publications

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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
 
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
 
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
 
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
 
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

External Links

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dbSNP dbSNP ID: 10313
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$281.00USD
Academic/Non-profit/Government:
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