GM26087
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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Hispanic/Latino
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Ethnicity
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Hispanic/Latino
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Ethnicity
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Mexican
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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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Y
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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46,XY[24].arr[hg19]15q11.2q13.1(23,641,501-28,709,280)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 |
| |
| Remarks |
Clinically affected; premature delivery; mother abused benzodiazepine, alcohol, and marijuana before delivering child; mild hemorrhage in the brain; poor prenatal care; ex vacuo hydrocephalus; had plagiocephaly and wore helmet; macrocephaly greater than 95th percentile; one seizure; some facial dysmorphia with deep epicanthal folds, upturned nosed, long filtrum could be relative to short nose, anteriorly placed earlobes; extra nipple; hypopigmentation on right shin; height less than third percentile; has multiple café-au-lait spots but not enough to call it syndromic for neurofibromatosis; accommodative estropia more on the left than right; speech delay; became non verbal at 26 months; regained speech at 4-5 years of age; autism spectrum disorder (severe); has OCD; delayed sleep disorder; geneticist diagnosed 15q11.2-13.2 duplication through FISH; subject has 2 affected siblings (GM26088-brother and GM26089- half brother) and mother is also suspected of being affected (not in repository); father was 49 years of age at the time of conception; medications include leucovorin, carnitine, vitamins, thyroid, and naltrexone. |
| Split Ratio |
1:2 |
| 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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