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NA00343 DNA from Fibroblast

Description:

WOLF-HIRSCHHORN SYNDROME; WHS
CHROMOSOME DELETION

Affected:

No Data

Sex:

Male

Age:

3 YR (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
Class Other Disorders of Known Biochemistry
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
ISCN 46,XY,del(4)(p15.2)[18]
Species Homo sapiens
Common Name Human
Remarks 46,XY,del(4)(qter>p14:)

Characterizations

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PDL at Freeze 3.98
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Chromosome Analysis
 
Cytogenetics Chromosome 4: DELETION Aneuploid Segment (-)4pter>4p14

Phenotypic Data

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Remarks 46,XY,del(4)(qter>p14:)

Publications

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Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023
PubMed ID: 38201393
 
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
 
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
 
Gusella JF, Tanzi RE, Bader PI, Phelan MC, Stevenson R, Hayden MR, Hofman KJ, Faryniarz AG, Gibbons K, Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf- Hirschhorn syndrome. Nature318:75-8 1985
PubMed ID: 2997623
 
Schmutz SM, Simpson NE, Suggested assignment of peptidase S (PEPS) to 4p11-4q12 by exclusion using gene dosage, accounting for variability in fibroblasts. Hum Genet64:134-8 1983
PubMed ID: 6350155

External Links

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dbSNP dbSNP ID: 10329
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 copy number variation 
copy number variation 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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