Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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LATIN AMERICAN
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XX,+i(18)(p10).arr[hg19] 18p11.32p11.1(11542-15401751)x4
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18p10 |
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Chromosome 18: ANEUPLOID Trisomic Segment 18pter>18cen |
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Chromosome 18: ISOCHROMOSOME Aneuploid Segment (+)18pter>18p10 |
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Chromosome 18: ISOCHROMOSOME Trisomic Segment 18pter>18cen |
| Remarks |
Microcephaly; developmental delay; epicanthal folds; broad philtrum; clinodactyly; absent depressor angulus oris muscle; hemiparesis; centromere of isochromosome confirmed by probe (D18Z1) analysis; see GM06871 Fibroblast |
| Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM, Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand NPJ genomic medicine9:57 2024 |
| PubMed ID: 39516456 |
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| 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 |
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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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