GM22623
LCL from B-Lymphocyte
Description:
POTOCKI-SHAFFER SYNDROME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities Heritable Diseases dbGaP |
Biopsy Source
|
Peripheral vein
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Cell Type
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B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
|
46,XX,ins(13;11)(q14.1;p11.2p12).ish ins(13;11)(q14.1;p11.2p12)(wcp11+).arr(1-22,X)x2
|
Species
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Homo sapiens
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Common Name
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Human
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Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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Cytogenetics |
Chromosome 11: INSERTION Breakpoint 11p11.2>11p12 |
|
Chromosome 13: INSERTION Breakpoint 13q14.1 |
Remarks |
Clinically normal; mother of GM22622 |
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 |
|
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG, Construction of a natural panel of 11p112 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome European journal of human genetics : EJHG13:528-40 2005 |
PubMed ID: 15852040 |
View |
FISH spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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FISH spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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FISH spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
MicroArray Chromosome 13 |
|
MicroArray Karyotype View of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0 |
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 |
- |
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