GM50122
LCL from B-Lymphocyte
Description:
18Q- SYNDROME
CHROMOSOME DELETION
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
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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ISCN
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46,XY,del(18)(q21.3).ish del(18)(q21.3)(VIJ2yRM2102+,18qtel11-).arr 18q21.33q23(59459274-76116029)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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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Cytogenetics |
Chromosome 18: DELETION Aneuploid Segment (-)18q21>18qter |
Remarks |
Line JL184; 18q- syndrome; midface hypoplasia; flat philtrum; high or cleft lip/palate; flat nasal bridge; micropenis; hypotonia; seizures; hearling loss; strabismus; nystagmus; developmental delay; mental retardation [case 15 in Strathdee et al Am J Med Genet 59:476-483, 1995]; parental line of hybrid GM14563 |
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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Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S, Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci U S A101(51):17765-70 2004 |
PubMed ID: 15591353 |
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Katz SG, Schneider SS, Bartuski A, Trask BJ, Massa H, Overhauser J, Lalande M, Lansdorp PM, Silverman GA, An 18q- syndrome breakpoint resides between the duplicated serpins SCCA1 and SCCA2 and arises via a cryptic rearrangement with satellite III DNA. Hum Mol Genet8(1):87-92 1999 |
PubMed ID: 9887335 |
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Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J, Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet59(4):476-83 1995 |
PubMed ID: 8585568 |
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Kline AD, White ME, Wapner R, Rojas K, Biesecker LG, Kamholz J, Zackai EH, Muenke M, Scott CI Jr, Overhauser J, Molecular analysis of the 18q- syndrome--and correlation with phenotype. Am J Hum Genet52(5):895-906 1993 |
PubMed ID: 8488839 |
Split Ratio |
1:3 |
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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