GM23004
LCL from B-Lymphocyte
Description:
CHROMOSOME 1P36 DELETION SYNDROME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
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
|
Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Relation to Proband
|
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,XX,del(1)(p36.3).ish del(1)(p36.33)(CEB108/T7-,SKI-,D1S3739+)
|
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 |
Dysmorphic facial features; patent ductus arteriosus; atrial septal defect; patent foramen ovale; long QT; sensorineural hearing loss; B cystic retinal coloboma; hyperopia; umbilical wall defect and hernia; hypotonia; decreased deep tendon reflexes; seizures. |
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG, Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p363, 2p161-p231, 4q2121-q221, 6q26-q27, and 21q2 American journal of medical genetics Part A146A:1637-54 2008 |
PubMed ID: 18536050 |
|
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 |
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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