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NA07408 DNA from Chorionic villus-derived cell line

Description:

ANEUPLOID CHROMOSOME NUMBER - TRISOMY

Affected:

No Data

Sex:

Female

Age:

12 FW (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 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Chorionic villus
Cell Type Chorionic villus-derived cell line
Transformant Untransformed
Sample Source DNA from Chorionic villus-derived cell line
Race More than one race
Country of Origin USA
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 47,XX,+20
Species Homo sapiens
Common Name Human
Remarks Asian/Caucasian; culture established from membrane and chorionic villi of a spontaneous abortus; 47,XX,+20; 10% of cells show random chromosome loss

Characterizations

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PDL at Freeze 6.5
Passage Frozen 12
 
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 20: ANEUPLOID Aneuploid Segment (+)20pter>20qter
Chromosome 20: ANEUPLOID Aneuploid Segment (+)20pter->20qter
Chromosome 20: ANEUPLOID Trisomic Segment 20pter>20qter

Phenotypic Data

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Remarks Asian/Caucasian; culture established from membrane and chorionic villi of a spontaneous abortus; 47,XX,+20; 10% of cells show random chromosome loss

Publications

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García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11: 2020
PubMed ID: 32610655
 
Treff NR, Zimmerman R, Bechor E, Hsu J, Rana B, Jensen J, Li J, Samoilenko A, Mowrey W, Van Alstine J, Leondires M, Miller K, Paganetti E, Lello L, Avery S, Hsu S, Melchior Tellier LCA, Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform European journal of medical genetics62:103647 2019
PubMed ID: 31026593
 
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
 
Pinkel D, Albertson DG, Comparative genomic hybridization. Annu Rev Genomics Hum Genet6:331-54 2005
PubMed ID: 16124865
 
van den Ijssel P, Tijssen M, Chin SF, Eijk P, Carvalho B, Hopmans E, Holstege H, Bangarusamy DK, Jonkers J, Meijer GA, Caldas C, Ylstra B, Human and mouse oligonucleotide-based array CGH Nucleic acids research33:e192 2005
PubMed ID: 16361265

External Links

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dbSNP dbSNP ID: 17017
GEO GEO Accession No: GSM75168
GEO Accession No: GSM806
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM07408 - Chorionic villus-derived cell line
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