Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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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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Cell Type
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Fibroblast
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Transformant
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Untransformed
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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,XY,+15.arr 15q11.1q26.3(18332386-100276767)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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| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 15: ANEUPLOID Aneuploid Segment (+)15pter>15qter |
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Chromosome 15: ANEUPLOID Trisomic Segment 15pter>15qter |
| Remarks |
Spontaneous abortus; 162% of normal pyruvate kinase-3 activity |
| Del Rey J1, Vidal F2,3,4, Ramírez L2, Borràs N2, Corrales I2, Garcia I2, Martinez-Pasarell O5, Fernandez SF6, Garcia-Cruz R6, Pujol A1,7, Plaja A1,8, Salaverria I1,9, Oliver-Bonet M1, Benet J1, Navarro J1., Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure. PLoS One13: 2018 |
| PubMed ID: 30332465 |
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| Ramos L, Del Rey J, Daina G, Martinez-Passarell O, Rius M, Tuñón D, Campillo M, Benet J, Navarro J., Does the S phase have an impact on the accuracy of comparative genomic hybridization profiles in single fibroblasts and human blastomeres? Fertil Steril.pii:S0015-0282(13)03194-4 2013 |
| PubMed ID: 24314925 |
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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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| Treff NR, Su J, Tao X, Levy B, Scott RT, Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays Fertility and sterility94:2017-21 2009 |
| PubMed ID: 20188357 |
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| Ensminger AW, Chess A, Coordinated replication timing of monoallelically expressed genes along human autosomes. Hum Mol Genet13(6):651-8 2004 |
| PubMed ID: 14734625 |
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| Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL, Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet36:954-64 1984 |
| PubMed ID: 6093508 |
| Passage Frozen |
5 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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