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NA00857 DNA from Fibroblast

Description:

TURNER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC

Affected:

Yes

Sex:

Female

Age:

1 DA (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
dbGaP
Quantity 10 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 45,X
Species Homo sapiens
Common Name Human
Remarks Turner syndrome

Characterizations

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Passage Frozen 5
 
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
 
Cytogenetics Chromosome X: ANEUPLOID Aneuploid Segment (-)Xpter>Xqter

Phenotypic Data

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Remarks Turner syndrome

Publications

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Chien CW, Tang YA, Jeng SL, Pan HA, Sun HS, Blastocyst telomere length predicts successful implantation after frozen-thawed embryo transfer Human reproduction open2024:hoae012 2023
PubMed ID: 38515829
 
Biradar VS, Rajpathak SN, Joshi SR, Deobagkar DD, Functional and regulatory aspects of oxidative stress response in X monosomy In vitro cellular & developmental biology Animal57:661-675 2021
PubMed ID: 34505228
 
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
 
Stults DM, Killen MW, Shelton BJ, Pierce AJ, Recombination phenotypes of the NCI-60 collection of human cancer cells BMC molecular biology12:23 2011
PubMed ID: 21586152
 
Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE, Detection of aneuploidies by paralogous sequence quantification Journal of medical genetics41:908-15 2004
PubMed ID: 15591276
 
Just W, Geerkens C, Held KR, Vogel W, Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet89:240-2 1992
PubMed ID: 1587534
 
Daiger SP, Wildin RS, Su TS, Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Nature298:682-4 1982
PubMed ID: 7099264

External Links

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dbSNP dbSNP ID: 10368

Images

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View karyotype 
karyotype 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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