GM50159
LCL from B-Lymphocyte
Description:
DUPLICATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
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Sample Source
|
LCL from B-Lymphocyte
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Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
|
46,XX,dup(18)(q21.2q22).ish dup(18)(q21.2q22)(wcp18+,D18S1390+).arr 18q21.2q22.1(46650952-63748550)x3
|
Species
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Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Remarks |
Line JL298; brachydactyly of the fingers and toes; dystrophic nails; mild facial asymmetry; small mouth; mild to moderate developmental delay with normal growth; right hydronephrosis, strabismus; hyperopia; mild hearing loss; essential tremor; seizures; normal EEG; mental retardation [case 6 in Boghosian-Sell et al, Am J Hum Genet 55:476-483,1994] |
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 |
|
Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J, Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Am J Hum Genet55(3):476-83 1994 |
PubMed ID: 8079991 |
Split Ratio |
1:2 |
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 |
- |
|