Description:
UNIPARENTAL DISOMY CHROMOSOME 8
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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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XY.arr[hg19]8p23.3p23.1(161,221-6,815,328)hmz,8p23.1p11.21(8,087,143-42,858,299)hmz
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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 |
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| UNIPARENTAL DISOMY MOLECULAR ANALYSIS |
This cell line was submitted as a uniparental disomy for chromosome 8. Genomic DNA from this culture was genotyped with di-nucleotide microsatellite markers from the ABI Linkage Mapping Panel version 2. Fourteen microsatellite markers on chromosome 8 were genotyped. All of these were homozygous in GM15603, whereas only 2 out of 14 were homozygous in a control line (GM06990). Additional microsatellite markers for chromosomes 1, 2, 3, and 4 were assayed and indicate a normal frequency of homozygous and heterozygous genotypes. The results were consistent with a uniparental disomy for chromosome 8. |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Remarks |
Uniparental isodisomy for chromosome 8; history of asthma as child; at age 13 years a torsion of appendix testis on the left side was diagnosed and at the time of surgery two appendices were discovered with normal pathology; at age 14 years a pea-sized lump was removed from the area of the right slighlty gynecomastic breast; at age 26 years an ileal carcinoid tumor of about 1 cm in diameter was removed proximal from the ileocecal junction and tumor cells also found in four enlarged regional lymph nodes; at age 33 years joint pain developed in the proximal interphalangeal joint of the left index finger, left ankle, and left knee; swollen joints; the sedimentation rate was high (over 90); HLA B27 was positive; serologic tests for rheumatoid arthritis were negative; symptoms of early presbyopia at age 39 years; slight thoracal scoliosis; numerous pigmented nevi and histology on one indicated a normal nevus pigmentosus intradermalis; several small cherry hemangiomas on trunk; three irregularly shaped depigmented maculae of about 2 cm diameter each on the right scapular region; normal intelligence. |
| 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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| Northrop LE, Treff NR, Levy B, Scott RT, SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts Molecular human reproduction16:590-600 2010 |
| PubMed ID: 20479065 |
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