GM11961
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP
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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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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46,XX,der(11)t(11;18)(q24.2;q22),del(18)(q22).ish der(11)t(11;18)(wpc11+,D11S4974-,D18S1390+),del(18)(q22)(D18S1390-,D11S4974-,wpc11-).arr 11q24.2q25(126745349-134358309)x1
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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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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11q24 t(11;18)11q24 |
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Chromosome 18: TRANSLOCATION Breakpoint 18q22 t(11;18)18q22 |
| Remarks |
Mental retardation; midface hypoplasia; carp-mouth; first-arch abnormalities; cleft palate/uvula; arthritis |
| 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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| Petty RE, Malleson P, Kalousek DK, Chronic arthritis in two children with partial deletion of chromosome 18. J Rheumatol14:586-7 1987 |
| PubMed ID: 3625639 |
| View |
FISH Texas Red detects 11qtel(D11S4974), FITC detects 18qtel(D18S1390) DAPI counterstain |
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FISH Texas Red detects 11qtel(D11S4974), FITC detects 18qtel(D18S1390) DAPI counterstain |
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FISH FITC detects 11pter->11qter, DAPI counterstain |
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FISH FITC detects 11pter->11qter, DAPI counterstain |
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karyotype FITC detects 11pter->11qter, DAPI counterstain |
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karyotype FITC detects 11pter->11qter, DAPI counterstain |
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karyotype FITC detects 11pter->11qter, DAPI counterstain |
| Split Ratio |
1:3 |
| 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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