GM23492
LCL from B-Lymphocyte
Description:
CHROMOSOME 15Q11-Q13 DUPLICATION SYNDROME
DUPLICATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
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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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Country of Origin
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USA
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Family Member
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1
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Family History
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N
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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.arr 8p11.21p11.1(43052516-43943193)x3,15q11.2(21192942-22232117)x3 mat,15q11.2q13.1(22264702-26741734)x3 mat
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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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| Remarks |
Clinically affected; autistic; broad forehead; long palpebral fissures; short, bulbous nose with anteverted nares; wide nasal bridge; long philtrum; pointed chin; full cheeks; wide mouth; hernia; brain malformation; seizures; ADOS calibrated severity score of 6; variant EEG (excessive diffuse 18-22 Hz beta spikes in the waking record); epileptiform discharges on EEG which presented as generalized spike and wave activity activated by photic stimulation; 5.3 mb inherited 15q interstitial duplication of maternal origin; refer to patient 801-018 as described by Urraca et al PMID: 23495136; affected brother is GM24539; clinically normal mother is GM23493. |
| 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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| Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT, The interstitial duplication 15q112-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature Autism research : official journal of the International Society for Autism Research6:268-79 2012 |
| PubMed ID: 23495136 |
| Split Ratio |
1:5 |
| 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 |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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