GM20743
LCL from B-Lymphocyte
Description:
SMITH-MAGENIS SYNDROME; SMS
CHROMOSOME DELETION
RETINOIC ACID-INDUCED GENE 1; RAI1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Class |
Disorders of Uncertain Biochemical Etiology |
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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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White
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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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47,XY,+i(16)(qter->q10::q10->qter)[1]/46,XY,del(16)(pter->q10:)[2]/46,XY[17].arr[hg19] 17p11.2(16,769,800-18,722,823)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 17: DELETION Aneuploid Segment (-)17p11.2>17p11.2 |
| Remarks |
Clinically affected; brachycephaly; midface hypoplasia; prognathism; tented upper lip; broad square midface; short broad hands; short stature; middle ear/laryngeal anomalies; hoarse deep voice; mental retardation; speech and motor delay; infantile hypotonia; sleep disturbance; self-injurious behavior; hearing loss; ocular abnormalities; scoliosis; cardiovascular anomalies; renal anomalies |
| 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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| Vlangos CN, Yim DK, Elsea SH, Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p112 deletions Are all deletions created equally? Molecular genetics and metabolism79:134-41 2003 |
| PubMed ID: 12809645 |
| Split Ratio |
1:4 |
| 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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