GM50186
LCL from B-Lymphocyte
Description:
18Q- SYNDROME
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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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,XX,del(18)(q22).ish del(18)(q22)(18qtel11-).arr 18q22.3q23(70768490-76116029)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 (-)18q23>18qter |
| Remarks |
Line JL430; 18q- syndrome [daughter in Strathdee et al Am J Med Genet 60:860-868, 1997]; microcephaly; midface hypoplasia; up- or downslanting palpebral fissures; malformed ears; flat philtrum; carp-shaped mouth; prognathism; flat nasal bridge; hearing loss [family 3 in Gersh et al Am J Hum Genet 56:1404-1410, 1995]; similarly affected mother; parental line of hybrid GM50099 |
| García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11: 2020 |
| PubMed ID: 32610655 |
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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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| Strathdee G, Sutherland R, Jonsson JJ, Sataloff R, Kohonen-Corish M, Grady D, Overhauser J, Molecular characterization of patients with 18q23 deletions. Am J Hum Genet60(4):860-8 1997 |
| PubMed ID: 9106532 |
| 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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