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NA00734 DNA from Fibroblast

Description:

ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18
ANEUPLOID CHROMOSOME NUMBER - TRISOMY

Affected:

No Data

Sex:

Female

Age:

18 FW (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 47,XX,+18[19]
Species Homo sapiens
Common Name Human

Characterizations

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PDL at Freeze 4.99
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18qter
Chromosome 18: ANEUPLOID Trisomic Segment 18pter>18qter

Phenotypic Data

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No data is available

Publications

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Akutsu SN, Miyamoto T, Oba D, Tomioka K, Ochiai H, Ohashi H, Matsuura S, iPSC reprogramming-mediated aneuploidy correction in autosomal trisomy syndromes PloS one17:e0264965 2021
PubMed ID: 35271616
 
Krivega M, Stiefel CM, Karbassi S, Andersen LL, Chunduri NK, Donnelly N, Pichlmair A, Storchová Z, Genotoxic stress in constitutive trisomies induces autophagy and the innate immune response via the cGAS-STING pathway Communications biology4:831 2021
PubMed ID: 34215848
 
Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020
PubMed ID: 34330281
 
Hwang S, Williams JF, Kneissig M, Lioudyno M, Rivera I, Helguera P, Busciglio J, Storchova Z, King MC, Torres EM, Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells Cell reports29:2473-2488.e5 2019
PubMed ID: 31747614
 
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
 
Zhou X, Cole SW, Hu S, Wong DT, Detection of DNA copy number abnormality by microarray expression analysis Human genetics114:464-7 2004
PubMed ID: 14872338
 
Zhou X, Mok SC, Chen Z, Li Y, Wong DT, Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) for oral premalignancy progression using the Affymetrix 10K SNP mapping array Human genetics115:327-30 2004
PubMed ID: 15290239

External Links

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dbSNP dbSNP ID: 21326
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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