GM20567
LCL from B-Lymphocyte
Description:
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP
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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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46,XY,inv(2)(p11.2q13).arr 2p11.2(89571988-89904396)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 |
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| Cytogenetics |
Chromosome 2: INVERSION Breakpoint 2p11.2 |
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Chromosome 2: INVERSION Breakpoint 2q13 |
| Remarks |
Developmental delay; overgrowth, advanced bone age (3SD older than chronological age; obesity; macrocephaly; partial fusion of spine at C2-C3; hypertelorism, "carp-shaped" mouth; behavioral problems including temper tantrums, hitting of head and chest when frustrated, aggression, problems with toilet training, encopresis (defecating in particular); history of febrile seizures (X2), but no epilepsy; history of respiratory problems including pneumonia and acute asthma, especially in the cold weather |
| 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 |
1:4 |
| 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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