GM26088
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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2
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Family History
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Y
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Relation to Proband
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brother
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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[23].arr[hg19]15q11.2q13.1(23,670,971-28,709,280)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 |
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| Remarks |
Clinically affected; poor prenatal care; mother used alcohol and substance abuse during pregnancy; born at 34 weeks gestation; severe history of constipation since infancy; milestones: able to stand at 18 months and walked at 21 months; short bulbous nose; autism spectrum disorder; lack of coordination, loose joints, normocephalic; mild clinodactyly of 5th figner but no abnormality; spontaneous unintelligent speech; geneticist diagnosed 15q11.2q13.1 duplication through FISH; subject has 2 affected siblings (GM26087-brother and GM26089- half brother) and mother is also suspected of being affected (not in repository); father was 50 years old at the time of conception; medications for presumed mitochondrial disorder; leucovorin for presumed folic acid deficiency; vitamins; thyroid supplement; casein and gluten-free diet; vitamin C and magnesium citrate. |
| 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 |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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