GM05067
LCL from B-Lymphocyte
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Biopsy Source
|
Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
LCL from B-Lymphocyte
|
Race
|
Black/African American
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Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
47,XY,+9,del(9)(q11)[20]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
|
CNVPANEL |
For more information click here:CNVPANEL01 |
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CNVPANEL |
For more information click here:CNVPANEL01 |
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Cytogenetics |
Chromosome 9: ANEUPLOID Aneuploid Segment (+)9pter>9q11 |
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Chromosome 9: ANEUPLOID Aneuploid Segment (+)9pter>9q11 |
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Chromosome 9: ANEUPLOID Trisomic Segment 9pter>9q11 |
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Chromosome 9: DELETION Aneuploid Segment (+)9pter>9q11 |
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Chromosome 9: DELETION Trisomic Segment 9pter>9q11 |
Remarks |
Multiple malformations and mental retardation; see GM03226 Fibroblast |
Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM, Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand NPJ genomic medicine9:57 2024 |
PubMed ID: 39516456 |
|
Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
PubMed ID: 35039224 |
|
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 |
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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