GM10985
LCL from B-Lymphocyte
Description:
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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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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46,XX,del(3)(p25).arr 3p26.3p25.3(35333-10305377)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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 3: DELETION Aneuploid Segment (-)3pter>3p25 |
| Remarks |
Feeding problems; ptosis; blepharophimosis; telecanthus; failure to thrive; growth delay; peculiar facies; abnormal kidney positioning and orientation |
| 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 2022 |
| PubMed ID: 35039224 |
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| Biricik A, Cotroneo E, Minasi MG, Greco PF, Bono S, Surdo M, Lecciso F, Sessa M, Fiorentino F, Spinella F, Greco E, Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model Life (Basel, Switzerland)11:228-238 2021 |
| PubMed ID: 33921258 |
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| García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11:228-238 2020 |
| PubMed ID: 32610655 |
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| Nikiforov D, Junping C, Cadenas J, Shukla V, Blanshard R, Pors SE, Kristensen SG, Macklon KT, Colmorn L, Ernst E, Bay-Bjørn AM, Ghezelayagh Z, Wakimoto Y, Grøndahl ML, Hoffmann E, Andersen CY, Improving the maturation rate of human oocytes collected ex vivo during the cryopreservation of ovarian tissue Journal of assisted reproduction and genetics11:228-238 2019 |
| PubMed ID: 32096110 |
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| 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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| Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A, et al, Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet3:903-8 1994 |
| PubMed ID: 7951234 |
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| Mowrey PN, Chorney MJ, Venditti CP, Latif F, Modi WS, Lerman MI, Zbar B, Robins DB, Rogan PK, Ladda RL, Clinical and molecular analyses of deletion 3p25-pter syndrome. Am J Med Genet46:623-9 1993 |
| PubMed ID: 8103286 |
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| Ramer JC, Ladda RL, Frankel C, Two infants with del(3)(p25pter) and a review of previously reported cases [see comments] Am J Med Genet33:108-12 1989 |
| PubMed ID: 2665488 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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