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NA25858 DNA from LCL

Description:

CHROMOSOME 16P12.1 DELETION SYNDROME

Affected:

No

Sex:

Female

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
PIGI Consented Sample
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
Country of Origin USA
Family Member 3
Family History N
Relation to Proband mother
Species Homo sapiens
Common Name Human
Remarks Negative for Chrom16p12.2 deletion; non-carrier mother of affected proband (GM25861); depression; personality disorder; see extended family 3279; PMID 30190612.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Negative for Chrom16p12.2 deletion; non-carrier mother of affected proband (GM25861); depression; personality disorder; see extended family 3279; PMID 30190612.

Publications

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Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S, Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Genetics in medicine : official journal of the American College of Medical Genetics: 2018
PubMed ID: 30190612

External Links

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NCBI Gene Gene ID:2460
NCBI GTR 136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB
OMIM 136570 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB
Omim Description FRAGILE SITE 16p12
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
Related Products
Same Subject
  • GM25858 - B-Lymphocyte
Same Family
  • 3279
Miscellaneous
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