NA09834
DNA from Fibroblast
Description:
BASAL CELL NEVUS SYNDROME; BCNS
CHROMOSOME INSERTION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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IRISH
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,ins(5;15)(q23.2;q23q26.1)[18]/47,XX,ins(5;15)(q23.2;q23q26.1),+7[2].ish der(5)ins(5;15)(q23.2;q23q26.1)(D15S936-).arr 9q22.32q22.33(96899916-98688243)x1,9q31.3(110594443-110808216)x1,15q26.1(87257763-89565992)x1,19q13.42(55268215-55373806)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
6 |
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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 |
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| Cytogenetics |
Chromosome 15: INSERTION Breakpoint 15q23 ins(5;15)15q23 |
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Chromosome 15: INSERTION Breakpoint 15q26 ins(5;15)15q26 |
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Chromosome 5: INSERTION Breakpoint 5q23 ins(5;15)5q23 |
| Remarks |
Multiple basal cell nevi on forehead; frontal bossing; broad nasal bridge; thickened legs and ankles; jaw cysts; 46, XX,dir ins(5;15)(5pter>5q23.2::15q23> 15q26.1::5q23.2>5qter;15pter>15q23:: 15q26.1>15qter); balanced; see GM09833 Lymph |
| Andrew M. Gross PhD, Subramanian S. Ajay PhD, Vani Rajan MS, Carolyn Brown CGC, Krista Bluske PhD, Nicole J. Burns MS, Aditi Chawla PhD, Alison J. Coffey PhD, Alka Malhotra PhD, Alicia Scocchia MS CGC, Erin Thorpe MS CGC, Natasa Dzidic MS, Karine Hovanes PhD FACMG, Trilochan Sahoo MD FACMG, Egor Dolzhenko PhD, Bryan Lajoie PhD, Amirah Khouzam MS CGC, Shimul Chowdhury PhD FACMG, John Belmont MD PhD, Eric Roller PhD, Sergii Ivakhno PhD, Stephen Tanner PhD, Julia McEachern PA MHS, Tina Hambuch PhD FACMG, Michael Eberle PhD, R. Tanner Hagelstrom PhD FACMG, David R. Bentley PhD, Denise L. Perry MS CGC & Ryan J. Taft PhD, Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease Genetics in Medicine: 2018 |
| PubMed ID: 30293986 |
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| 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 |
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| Haylett AK, Ward TH, Moore JV, DNA damage and repair in Gorlin syndrome and normal fibroblasts after aminolevulinic acid photodynamic therapy: a comet assay study. Photochem Photobiol78(4):337-41 2003 |
| PubMed ID: 14626660 |
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