GM14490
LCL from B-Lymphocyte
Description:
DERIVATIVE 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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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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SCOTTISH/ENGLISH
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,der(8)del(8)(p23.3)dup(8)(p23.2p21.3).ish der(8)del(8)(p23.3)dup(8)(p23.2p21.3)(wcp8+,D8S596-,RP4-580L5-,RP11-666I19-,RP11-90O17++,RP11-89M8+,RP11-138J2+).arr 8p23.3(36385-2167361)x1,8p23.2p21.3(2330924-22251256)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 8: DERIVATIVE CHROMOSOME Aneuploid Segment (+)8p23.1>8p22 |
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Chromosome 8: DERIVATIVE CHROMOSOME Aneuploid Segment (-)8pter>8p23.1 |
| Remarks |
Amenorrhea; near normal IQ; easily distracted and anxious; coarse hair; facial asymmetry; clinodactyly of the 5th finger bilaterally; multiple pigmented nevi on arms and trunk; de novo duplication of 8p23.1>8p23.3 |
| 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 |
| 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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