GM22709
LCL from B-Lymphocyte
Description:
TRANSLOCATED 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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Possibly 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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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 after cell line submission to CCR
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ISCN
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46,XY,t(16;20)(q11.2;q13.2).ish t(16;20)(20qtel14+;20qtel14-).arr 1q23.3(159763523-159905125)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 16: TRANSLOCATION Breakpoint 16q11.1 |
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Chromosome 20: TRANSLOCATION Breakpoint 20q13.2 |
| Remarks |
De novo; low birth weight (5 lbs 1 oz); born with 1 ASD and 7 small VSDs; heart surgery at age 10 months to close defects; constipation; scoliosis detected by age 12-15 months, not currently present; from age 2-4 years wears braces in shoes for ankle and foot support; pneumonia at 2.5 months with hospitalization; Duane's syndrome in left eye detected at age 3 years; slight lisp; left undescended testis |
| 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 |
1:3 |
| 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 |
| Supplement |
- |
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