GM22995
LCL from B-Lymphocyte
Description:
CHROMOSOME 1P36 DELETION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
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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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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,del(1)(p36.3).arr[hg19]1p36.3(61722-5002713)x1
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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 1: DELETION Aneuploid Segment (-).ish del(1)(:p36.33->qter) |
| Remarks |
Developmental delay; speech delay; hypotonia; cardiomyopathy; structural congenital heart defects; mild hearing loss; mild-mod cerebellar ectopia; 4.5-5.0 Mb deletion of chromosome 1p36 (de novo, terminal); family history unknown - child adopted. |
| 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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| Gajecka M, Mackay KL, Shaffer LG, Monosomy 1p36 deletion syndrome American journal of medical genetics Part C, Seminars in medical genetics145C:346-56 2007 |
| PubMed ID: 17918734 |
| View |
FISH Texas Red detects SKI,FITC detects CEB108/T7,D1S3739,DAPI counterstain |
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karyotype Texas Red detects SKI,FITC detects CEB108/T7,D1S3739,DAPI counterstain |
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MicroArray The deletion 1 includes the SKI gene |
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MicroArray KaryotView of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0 |
| 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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