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NA12606 DNA from LCL

Description:

CHROMOSOME DELETION
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
COPY NUMBER VARIATION (CNV) REFERENCE PANEL

Affected:

No Data

Sex:

Male

Age:

9 MO (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 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
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 47,XY,+del(13)(q21.2).arr 13q11q21.2(17943628-59139422)x3
Species Homo sapiens
Common Name Human
Remarks Cleft palate; bilateral hydronephrosis & hydroureter; congenital heart defect

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 and by Chromosome Analysis
 
CNVPANEL For more information click here:CNVPANEL01
 
Cytogenetics Chromosome 13: ANEUPLOID Aneuploid Segment (+)13pter>13q21
Chromosome 13: ANEUPLOID Trisomic Segment 13pter>13q21
Chromosome 13: DELETION Aneuploid Segment (+)13pter>13q21
Chromosome 13: DELETION Trisomic Segment 13pter>13q21

Phenotypic Data

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Remarks Cleft palate; bilateral hydronephrosis & hydroureter; congenital heart defect

Publications

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Greer SU, Botello J, Hongo D, Levy B, Shah P, Rabinowitz M, Miller DE, Im K, Kumar A, Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic Journal of translational medicine21:378 2023
PubMed ID: 37301971
 
Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021
PubMed ID: 35039224
 
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

External Links

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dbSNP dbSNP ID: 11704
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
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  • Statement of Research Intent Form
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Same Subject
  • GM12606 - B-Lymphocyte
DNA Panels
  • CNVPANEL01
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