Description:
TRANSLOCATED CHROMOSOME
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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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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,der(14)t(14;20)(q32.3;q13.1)mat.ish der(14)(20QTEL14+).arr 14q32.33(103827157-106356482)x1,20q13.12q13.33(45326775-62426585)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 |
4 |
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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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| Cytogenetics |
Chromosome 14: DERIVATIVE CHROMOSOME Aneuploid Segment (-)14q32>14qter |
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Chromosome 14: DERIVATIVE CHROMOSOME Aneuploid Segment (-)14q32>14qter |
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Chromosome 20: DERIVATIVE CHROMOSOME Aneuploid Segment (+)20q13>20qter |
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Chromosome 20: DERIVATIVE CHROMOSOME Aneuploid Segment (+)20q13>20qter |
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Chromosome 20: DERIVATIVE CHROMOSOME Trisomic Segment 20q13>20qter |
| Remarks |
Expired at age 5 days; respiratory distress; persistent hypoxia; multiple congenital anomalies: microphthalmia, micrognathia, and severe congenital heart defect; alternate breakpoints are 14q32.1;20q11.2 |
| 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 |
| Passage Frozen |
4 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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