GM10922
LCL from B-Lymphocyte
Description:
CHROMOSOME DELETION
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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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Relation to Proband
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proband
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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,XY,del(3)(p25).arr 3p26.3p25.2(35332-11729807)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 Glucose-6-Phosphate Dehydrogenase and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 3: DELETION Aneuploid Segment (-)3pter>3p25 |
| Remarks |
Small; hypotonic; atrio-ventricular septal defect; hyperthyroidism; refractive amblyopia |
| Böttcher AK, Siqueira MB, Malgarezi N, Nunes MR, Mergener R, Kalil LP, Trevisan P, Zen PRG, First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo43:e2024133 2025 |
| PubMed ID: 39841745 |
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| 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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| Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A, et al, Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet3:903-8 1994 |
| PubMed ID: 7951234 |
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| Mowrey PN, Chorney MJ, Venditti CP, Latif F, Modi WS, Lerman MI, Zbar B, Robins DB, Rogan PK, Ladda RL, Clinical and molecular analyses of deletion 3p25-pter syndrome. Am J Med Genet46:623-9 1993 |
| PubMed ID: 8103286 |
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| Ramer JC, Ladda RL, Frankel C, Two infants with del(3)(p25pter) and a review of previously reported cases [see comments] Am J Med Genet33:108-12 1989 |
| PubMed ID: 2665488 |
| Split Ratio |
1:4 |
| 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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