GM09367
LCL from B-Lymphocyte
Description:
DUPLICATED CHROMOSOME
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 |
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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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LCL from B-Lymphocyte
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Race
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White
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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,dup(6)(q21q24).ish dup(6)(q21q24)(wcp6+).arr 6q21q24.2(107861056-143105847)x3
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| 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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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 6: DUPLICATION Aneuploid Segment (+)6q21>6q24 or 6q25 |
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Chromosome 6: DUPLICATION Trisomic Segment 6q21>6q24 or 6p25 |
| Remarks |
Down-slanting eyes; epicanthal folds; brushfield spots in left eye; flat nasal bridge; high arched palate; small ventricular septal defect; both parents have normal karyotypes |
| 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 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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