GM03997
LCL from B-Lymphocyte
Description:
DERIVATIVE CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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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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,XX,der(12)(pter>q24.3::p12>pter).ish der(12)(wcp12+,VIJTYAC14+,D12S2343-,VIJTYC14+)
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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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| FISH ANALYSES |
FISH with a chromosome 21-specific paint probe and FISH with a probe, D7S427, to 7q36 failed to detect chromosome 21 or 7 material in the 12q+ chromosome. |
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| Cytogenetics |
Chromosome 12: DERIVATIVE CHROMOSOME Aneuploid Segment (+)12pter>12p12 |
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Chromosome 12: DERIVATIVE CHROMOSOME Aneuploid Segment (-)12q24.3>12qter |
| Remarks |
Mental retardation with congenital anomalies and some features of Down syndrome: brachycephaly, high arched palate, gap between first and second toes, folded ear, Brushfield spots, and abnormal teeth; 150% of normal RBC superoxide dismutase activity |
| 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 |
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| Jenkins EC, Duncan CJ, Wright CE, Giordano FM, Wilbur L, Wisniewski K, Sklower SL, French JH, Jones C, Brown WT, Atypical Down syndrome and partial trisomy 21. Clin Genet24:97-102 1983 |
| PubMed ID: 6225574 |
| Split Ratio |
1:5 |
| 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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