Description:
ANGELMAN SYNDROME; AS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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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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46,XY,del(15)(q11.2q13).arr[hg19]15q11.2q13.1(23641501-28560804)x1,15q11.2(22301993-22588019)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 LINE assay |
| |
| Remarks |
Clinically affected; seizures; hypopigmentation; delayed langauge and motor skills; methylation studies consistent with Angelman syndrome; FISH studies confirmed deletion. |
| 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 |
| |
| Bittel DC, Kibiryeva N, Talebizadeh Z, Driscoll DJ, Butler MG, Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Genomics85(1):85-91 2005 |
| PubMed ID: 15607424 |
| View |
copy number variation |
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copy number variation |
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FISH GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
FISH GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20375:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
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