GM05011
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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White
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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,X,t(X;8;2)(Xpter>Xq21.2::2q14.2> 2qter;8qter> 8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)
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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 2: TRANSLOCATION Breakpoint 2q14 t(X;2;8)2q14 |
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Chromosome 8: TRANSLOCATION Breakpoint 8p11 t(X;2;8)8p11 |
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Chromosome X: TRANSLOCATION Breakpoint Xq21 t(X;2;8)Xq21 |
| Remarks |
Primary amenorrhea; lack of secondary sexual development; normal IQ; no dysmorphic features; see GM05010 Fibroblast; possible del(X)(q21.2q22.3); normal X is late replicating |
| 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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| Sala C, Arrigo G, Torri G, Martinazzi F, Riva P, Larizza L, Philippe C, Jonveaux P, Sloan F, Labella T, Toniolo D, Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics40:123-31 1997 |
| PubMed ID: 9070928 |
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| Juberg, Critical region hypothesis: Phenotypic prediction in a complex X;2;8 translocation. Am J Hum Genet33:108A (1981):123-31 1981 |
| PubMed ID: 9070928 |
| 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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