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NA22601 DNA from LCL

Description:

WOLF-HIRSCHHORN SYNDROME; WHS
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL

Affected:

Yes

Sex:

Male

Age:

3 MO (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
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 Hispanic/Latino
Ethnicity Hispanic/Latino
Family History N
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Typical facial dysmorphia; hypospadius; ectrodactyly (left upper extremity)

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
CNVPANEL For more information click here:CNVPANEL01
 
Cytogenetics Chromosome 4: DELETION Aneuploid Segment (-)4pter>4p15

Phenotypic Data

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Remarks Typical facial dysmorphia; hypospadius; ectrodactyly (left upper extremity)

Publications

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Tan VJ, Liu T, Arifin Z, Pak B, Tan ASC, Wong S, Khor CC, Yang H, Lee CG, Huang Z, Choolani MA, Chong SS, Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances Clinical chemistry: 2023
PubMed ID: 37477572
 
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 genetics: 2022
PubMed ID: 35394024
 
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 2022
PubMed ID: 35039224
 
Chuang TH, Wu ZH, Kuan CS, Lee MJ, Hsieh CL, Wang HL, Lai HH, Chang YJ, Chen SU, High concordance in preimplantation genetic testing for aneuploidy between automatic identification via Ion S5 and manual identification via Miseq Scientific reports11:18931 2021
PubMed ID: 34556730
 
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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NCBI Gene Gene ID:7467
NCBI GTR 194190 WOLF-HIRSCHHORN SYNDROME; WHS
OMIM 194190 WOLF-HIRSCHHORN SYNDROME; WHS
Omim Description WOLF-HIRSCHHORN CHROMOSOME REGION; WHCR
  WOLF-HIRSCHHORN SYNDROME; WHS

Images

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View FISH Spectrum Green detects CEP 4 ; Spectrum Orange detects WHS
FISH Spectrum Green detects D4S3359 ; Spectrum Orange detects CEP 4
karyotype Spectrum Green detects D4S3359 ; Spectrum Orange detects CEP 4
MicroArray Chromosome 4
MicroArray Chromosome 4 Zoom View
MicroArray Karyotype View of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0
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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  • GM22601 - B-Lymphocyte
DNA Panels
  • CNVPANEL01
Miscellaneous
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