GM22944
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
|
Cell Type
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B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Country of Origin
|
USA
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(1)(p36.3).arr[hg19]1p36.33p36.32(625457-3124155)x1
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Species
|
Homo sapiens
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Common Name
|
Human
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Remarks
|
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Cytogenetics |
Chromosome 1: ANEUPLOID Aneuploid Segment (-).ish del(1)(:p36.33->qter) |
Remarks |
Subject has de novo 3.0 MB deletion on chromosome 1p36 (163G9 deleted, 22L13 present). |
Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
PubMed ID: 38201393 |
|
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 Spectrum Green detects CEB108/T7,Texas Red detects SKI,FITC detects D1S3739,DAPI counterstain |
|
karyotype Spectrum Green detects CEB108/T7,Texas Red detects SKI,FITC detects D1S3739,DAPI counterstain |
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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