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search submit
NA12882 DNA from LCL

Description:

CEPH/UTAH PEDIGREE 1463

Affected:

No Data

Sex:

Male

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection CEPH
Repository Linkage Families
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity UTAH/MORMON
Family Member 6
Relation to Proband son
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Son

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Son

Publications

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Masset H, Ding J, Dimitriadou E, Debrock S, Tšuiko O, Smits K, Peeraer K, Voet T, Zamani Esteki M, Vermeesch JR, Single-cell genome-wide concurrent haplotyping and copy-number profiling through genotyping-by-sequencing Nucleic acids research50:e63 2022
PubMed ID: 35212381
 
Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics50:e63 2021
PubMed ID: 35394024
 
Miyao A, Kiyomiya JS, Iida K, Doi K, Yasue H, Polymorphic edge detection (PED): two efficient methods of polymorphism detection from next-generation sequencing data BMC bioinformatics20:362 2019
PubMed ID: 31253084
 
Johnston AD, Simões-Pires CA, Thompson TV, Suzuki M, Greally JM, Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding Nature communications10:3472 2018
PubMed ID: 31375681
 
Kim D, Paggi JM, Park C, Bennett C, Salzberg SL, Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype Nature biotechnology37:907-915 2018
PubMed ID: 31375807
 
Deleye L, Vander Plaetsen AS, Weymaere J, Deforce D, Van Nieuwerburgh F, Short Tandem Repeat analysis after Whole Genome Amplification of single B-lymphoblastoid cells Scientific reports8:1255 2017
PubMed ID: 29352241
 
Numanagic I, Malikic S, Ford M, Qin X, Toji L, Radovich M, Skaar TC, Pratt VM, Berger B, Scherer S, Sahinalp SC, Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes Nature communications9:828 2017
PubMed ID: 29483503

External Links

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dbSNP dbSNP ID: 627
GEO GEO Accession No: GSM421096
GEO Accession No: GSM659833
GEO Accession No: GSM660043
GEO Accession No: GSM660250
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • GM12882 - B-Lymphocyte
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Miscellaneous
  • Custom Services

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