GM22629
LCL from B-Lymphocyte
Description:
POTOCKI-SHAFFER SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases
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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Family Member
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2
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Relation to Proband
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mother
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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,XX,del(11)(p12p11).arr 11p12p11.12(41406851-49104319)x1
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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 11: DELETION Aneuploid Segment (-)11p11.2>11p12 |
| Remarks |
Clinically affected; mother of GM22628 |
| 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 |
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| 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 |
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| Chien WH, Sue WC, Kuo PL, Su MH, Lin CL, Potocki-Shaffer syndrome: report of one case Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi44:242-5 2003 |
| PubMed ID: 14674231 |
| Split Ratio |
1:2 |
| 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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