GM16451
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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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,der(18)t(18;21)(q21.3;q22.3).ish der(18)t(18;21)(VIJ2yRM2050-,D21S1575+),6p25.3p25.3(6ptel48x2).arr 2p13.3(69471388-70108256)x3,16p11.2(32187844-32787273)x1,18q21.32q23(55210763-76116029)x1,21q22.3(44431958-46893547)x3
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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 JL359; 18q- syndrome [patient 4 in Mahr et al. Am J Med Genet 67:172-178, 1996]; behavioral problems; odd manerisms; savant interest and memory for geography facts; positive autistic diagnostic interview; abnormal MRI; parental line for hybrid GM16452 |
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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Mahr RN, Moberg PJ, Overhauser J, Strathdee G, Kamholz J, Loevner LA, Campbell H, Zackai EH, Reber ME, Mozley DP, Brown L, Turetsky BI, Shapiro RM, Neuropsychiatry of 18q- syndrome. Am J Med Genet67(2):172-8 1996 |
PubMed ID: 8723044 |
View |
FISH FITC detects 6ptel48, Texas Red detects D21S1575, DAPI counterstain |
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FISH FITC detects 6ptel48, Texas Red detects D21S1575, DAPI counterstain |
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karyotype FITC detects 6ptel48, Texas Red detects D21S1575, DAPI counterstain |
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karyotype FITC detects 6ptel48, Texas Red detects D21S1575, DAPI counterstain |
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karyotype FITC detects 6ptel48, Texas Red detects D21S1575, DAPI counterstain |
|
karyotype FITC detects 6ptel48, Texas Red detects D21S1575, DAPI counterstain |
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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