GM14485
LCL from B-Lymphocyte
Description:
INVERTED DUPLICATION DELETION
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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Ethnicity
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PUERTO RICAN
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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,XY,der(8)del(8)(p23.3)dup(8)(p23.1p11.2).arr[hg19]8p23.1p11.1(12528415-43604474)x3,8p23.3p23.1(46385-7171085)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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| 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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| Cytogenetics |
Chromosome 8: DELETION Aneuploid Segment (+)8p23>8p11 |
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Chromosome 8: DELETION Aneuploid Segment (-)8pter>8p23 |
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Chromosome 8: DELETION Trisomic Segment 8p23>8p11 |
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Chromosome 8: DUPLICATION Aneuploid Segment (+)8p23>8p11 |
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Chromosome 8: DUPLICATION Aneuploid Segment (-)8pter>8p23 |
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Chromosome 8: DUPLICATION Trisomic Segment 8p23>8p11 |
| Remarks |
Hydrocephalus; left dysplastic kidney and right hydronephrosis; generalized hypotonia; single umbilical artery; agenesis of corpus callosum; coarctation of the aorta; Pierre-Robin sequence |
| 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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| Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE, Array based CGH and FISH fail to confirm duplication of 8p22-p231 in association with Kabuki syndrome Journal of medical genetics42:49-53 2005 |
| PubMed ID: 15635075 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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