Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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 |
| Alternate IDs |
GM17316 [ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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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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DNA from LCL
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Race
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Other
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Ethnicity
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GUYANAN
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Family Member
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1
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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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49,XYYYY
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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Remarks |
Mental retardation; medium build; mildly stigmatized; coarse facial features with a pugilistic appearance; bilateral lop ear deformities; mild gynecomastia; radioulnar synostosis; congenital cerebral atrophy; see GM11420 Fibroblast |
| Chen D, Zhen H, Qiu Y, Liu P, Zeng P, Xia J, Shi Q, Xie L, Zhu Z, Gao Y, Huang G, Wang J, Yang H, Chen F, Comparison of single cell sequencing data between two whole genome amplification methods on two sequencing platforms Scientific reports8:4963 2017 |
| PubMed ID: 29563514 |
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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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