GM22711
LCL from B-Lymphocyte
Description:
CHROMOSOME INSERTION
|
Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP
dbGaP |
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Biopsy Source
|
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
|
|
Transformant
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Possibly Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
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Race
|
White
|
|
Family Member
|
2
|
|
Family History
|
N
|
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Relation to Proband
|
father
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Confirmation
|
Karyotypic analysis after cell line submission to CCR
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|
ISCN
|
46,XY,ins(16;2)(q22.1;p16.1p16.3).ish ins(16;2)(wcp2+,16qtel48+).arr(1-22)x2,(XY)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 LINE assay |
| |
| Cytogenetics |
Chromosome 16: INSERTION Breakpoint 16q22.1 |
|
Chromosome 2: INSERTION Breakpoint 2p16.1p16.3 |
| Remarks |
Developmental delay; behavioral problems; significant speech delay as a child; obsessive compulsive tendancies; current speech impediment; father of GM22710 |
| 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 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Supplement |
- |
|
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