GM20419
LCL from B-Lymphocyte
Description:
ISODICENTRIC CHROMOSOME
AUTISTIC DISORDER
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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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Country of Origin
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USA
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Family Member
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1
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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 before cell line submission to CCR
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ISCN
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47,XX,+idic(15)(q13).ish idic(15)(q13)(D15Z1++,D15S11++,GABRB3++).arr 7q34(141715775-142203700)x1,9q31.3(110691440-111004281)x3,15q11.1q13.1(18276328-26234399)x4
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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 |
| |
| Cytogenetics |
Chromosome 15: DICENTRIC CHROMOSOME Aneuploid Segment (+)(15pter>15q13 |
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Chromosome 15: DICENTRIC CHROMOSOME Aneuploid Segment (+)15pter>15q13 |
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Chromosome 15: DICENTRIC CHROMOSOME Aneuploid Segment (+)15pter>15q13 |
| Remarks |
Attention deficit hyperactivity disorder; autism; mother is GM25278 and father is GM25279. |
| 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 |
| |
| Wang NJ, Liu D, Parokonny AS, Schanen NC, High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage. Am J Hum Genet75:267-281 2004 |
| PubMed ID: 15197683 |
| View |
FISH GM20419:
D15S11 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
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FISH GM20419:
D15S11 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
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FISH GM20419:
GABRB3 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
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FISH GM20419:
GABRB3 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
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karyotype GM20419:
GABRB3 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
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karyotype GM20419:
GABRB3 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
|
karyotype GM20419:
GABRB3 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
|
karyotype GM20419:
GABRB3 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
|
karyotype GM20419:
GABRB3 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects q11-13;
Dapi counterstain |
| 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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