GM20375
LCL from B-Lymphocyte
Description:
ANGELMAN SYNDROME; AS
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of Uncertain Biochemical Etiology |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
46,XY,del(15)(q11.2q13).arr[hg19]15q11.2q13.1(23641501-28560804)x1,15q11.2(22301993-22588019)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| 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 |
|
copy number variation |
|
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 |
| Split Ratio |
1:3 |
| 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 |
- |
|
|