GM01063
LCL from B-Lymphocyte
Description:
TRANSLOCATED CHROMOSOME
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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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Black/African American
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Family Member
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1
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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,t(4;13)(4pter>4q31.3::13q14.3> 13qter;13pter>13q14.3::4q31.3>4qter)
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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 and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13q14 t(4;13)13q14 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q31 t(4;13)4q31 |
| Remarks |
Karyotype is unstable; HLA type A1,B12, Bw17; mental retardation; height, weight, and head circumference below 3rd %ile; grade II-IV systolic murmur; abnormal facies; finger and toe abnormalities; see GM00972 Fibroblast |
| Yang Z, Yang X, Sun Y, Wang Y, Song L, Qiao Z, Fang Z, Wang Z, Liu L, Chen Y, Yan S, Guo X, Zhang J, Fan C, Liu F, Peng Z, Peng H, Sun J, Chen W, Test development, optimization and validation of a WGS pipeline for genetic disorders BMC medical genomics16:74 2022 |
| PubMed ID: 37020281 |
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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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| Yount WJ, Utsinger PD, Hutt LM, Buchanan PD, Korn JH, Fuller CR, Logue M, Pagano JS, Subpopulations of human lymphoblastoid cell lines. Correlation with the expression of surface receptors and content of Epstein-Barr virus genome. Scand J Immunol5:795-810 1976 |
| PubMed ID: 62390 |
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| Jenkins EC, Curcuru-Giordano FM, Krishna SG, Cantarella J, De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl. Ann Genet18:117-20 1975 |
| PubMed ID: 1081364 |
| 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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