GM06226
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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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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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,XY,der(1)t(1;16)(q44;p12)mat.arr 1q44(245373155-247190999)x1,16p13.3p12.2(25815-21297471)x3,16p12.1(21853546-22612021)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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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (-)1q44>1qter |
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Chromosome 16: DERIVATIVE CHROMOSOME Aneuploid Segment (+)16pter>16p13 |
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Chromosome 16: DERIVATIVE CHROMOSOME Trisomic Segment 16pter>16p13 |
| Remarks |
Hb alpha/Hb beta ratio equals 3:2 in RBC; has 2 identical copies of the maternally inherited alpha gene cluster and 1 copy of the paternally inherited gene cluster |
| 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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| Nicholls RD, Jonasson JA, McGee JO, Patil S, Ionasescu VV, Weatherall DJ, Higgs DR, High resolution gene mapping of the human alpha globin locus. J Med Genet24:39-46 1987 |
| PubMed ID: 2879933 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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