GM05881
LCL from B-Lymphocyte
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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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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Ethnicity
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IRAQI
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Family Member
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1
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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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47,XX,+del(21)(q22.1q22.3).ish del(21)(wcp21+,VIJ2yRM2029+).arr 1q23.3(159780382-159905125)x1,21p11.2q22.11(9758729-33091078)x3,21q22.3(46727194-46921373)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 |
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| Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21q21::21q21>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21q21::21q21>21qter |
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Chromosome 21: DELETION Aneuploid Segment (+)21pter>21q21::21q21>21qter |
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Chromosome 21: DELETION Trisomic Segment 21pter>21q21::21q21>21qter |
| Remarks |
Short stature and abnormal dermatoglyphics; one child with severe congenital malformations (Potters phenotype); see GM05880 Fibroblast |
| 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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| Antonarakis SE, Warren AC, McCormick MK, Lewis JG, Hieter PA, Chakravarti A, Molecular mapping of chromosome 21 and the region responsible for Down syndrome. Prog Clin Biol Res311:29-43 1989 |
| PubMed ID: 2528152 |
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| McCormick MK, Schinzel A, Petersen MB, Stetten G, Driscoll DJ, Cantu ES, Tranebjaerg L, Mikkelsen M, Watkins PC, Antonarakis SE, Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics5:325-31 1989 |
| PubMed ID: 2529205 |
| 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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