Description:
CRI-DU-CHAT SYNDROME
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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Repository
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No Data
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| Subcollection |
Chromosome Abnormalities
dbGaP |
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License Required
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No Data
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Sample Source
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No Data
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Subject Type
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No Data
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Family Type
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No Data
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Ethnicity
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No Data
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Family Member
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No Data
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Genetic Data
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No Data
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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 |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5p15>5p14 |
| 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 |
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| Zhou B1,2, Ho SS1,2, Zhang X1,2, Pattni R1,2, Haraksingh RR3, Urban AE1,2,4., Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis Journal of Medical Genetics44:228-238 2018 |
| PubMed ID: 30061371 |
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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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| Goodart SA, Simmons AD, Grady D, Rojas K, Moyzis RK, Lovett M, Overhauser J, A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics24(1):63-8 1994 |
| PubMed ID: 7896290 |
| Split Ratio |
1:4 |
| 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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