GM22929
LCL from B-Lymphocyte
Description:
CHROMOSOME 1P36 DELETION SYNDROME
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Biopsy Source
|
Peripheral vein
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Cell Type
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B-Lymphocyte
|
Tissue Type
|
Breast
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
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Country of Origin
|
USA
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XY,del(1)(p36.3).ish del(1)(p36.33)(CEB108/T7-,SKI-,D1S3739+)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
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 |
Subject has 2.2 MB deletion on chromosome 1p36 (361M21 deleted, de novo, apparently simple terminal truncation). |
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 |
|
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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