GM21715
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 |
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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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Country of Origin
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USA
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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,XY,dup(15)(q11.2q13).ish dup(15)(q11.2q13)(D15Z1+,D15S11++,GABRB3++).arr 15q11.2(19535697-20089383)x3,15q11.2q13.1(21500758-26084762)x3
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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 15: DUPLICATION Aneuploid Segment (+)15q11-15q13 |
| Remarks |
Clinically affected; long standing history of cognitive and socialization difficulties as well as a history of self-stimulatory behaviors, social peer interaction difficulties, and mild regimentation; delivered by C-section with a birth weight of 6 lbs 9 oz; apgar scores of 8 and 9 at 1 and 5 minutes respectively; developmental and motor delay; did not sit independently until 12 months of age; walked at 15 months; did not develop consistent short phrases until 36 months; bladder control at 36 months; shy, prefers to be alone; echolalia; receives occupational and speech therapy a few times a week; constipated; interactive and loving with his immediate family; examination at 7 years old reports: autism spectrum disorder, ADOS calibrated severity score of 6, IQ of 79, variant EEG (excessive diffuse 18-22 Hz beta spikes in the waking record), short nose, anteverted nares, long philtrum, wide mouth, relaxed facial muscles, hernia, and attention deficit; 8.2 mb de novo 15q interstitial duplication of maternal origin; refer to patient 801-002 as described by Urraca et al PMID: 23495136. |
| 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 |
1:4 |
| 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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