GM23699
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 |
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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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Not Hispanic/Latino
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Family History
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N
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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,X,der(Y)t(X;Y)(Xp22.2;Yq11.222),t(5;11)(q13;p12).ish der(Y)t(X;Y)(Xp22.2;Yq11.222)(SRY+,DYZ3-,STS+,DXZ1-).arr Xp22.33p22.2(108464-13452835)x2,Yq11.221q11.23(18073216-26861392)x0
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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 LINE assay |
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| Remarks |
Mild cranial asymmetry; ASD and MVP; developmental delay; white matter abnormality- possible delay in maturation; wide-based gait; combined motor and language delay |
| 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 |
| View |
FISH Spectrum Orange detects STS, Spectrum Green detects DXZ1, DAPI counterstain |
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FISH Spectrum Orange detects STS, Spectrum Green detects DXZ1, DAPI counterstain |
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FISH Spectrum Orange detects SRY, Spectrum Green detects DXZ1, DYZ1, DAPI counterstain |
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FISH Spectrum Orange detects SRY, Spectrum Green detects DXZ1, DYZ1, DAPI counterstain |
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karyotype Spectrum Orange detects SRY, Spectrum Green detects DXZ1, DYZ1, DAPI counterstain |
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karyotype Spectrum Orange detects SRY, Spectrum Green detects DXZ1, DYZ1, DAPI counterstain |
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karyotype Spectrum Orange detects SRY, Spectrum Green detects DXZ1, DYZ1, DAPI counterstain |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
30% fetal bovine serum Not Inactivated |
| Supplement |
- |
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