GM20556
LCL from B-Lymphocyte
Description:
ISODICENTRIC CHROMOSOME
AUTISTIC DISORDER
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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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 before cell line submission to CCR
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ISCN
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47,XY,+idic(15)(q13).ish idic(15)(q13)(D15Z1++,D15S11++,GABRB3++).arr Yq11.223q11.23(23920264-27079691)x2,15q11.1q13.3(18276329-30557740)x4
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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 LINE assay |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
| |
| Cytogenetics |
Chromosome 15: DICENTRIC CHROMOSOME Aneuploid Segment (+)15pter>15q13 |
| Remarks |
Clinically affected; moderate to severe cognitive impairment; meets criteria for autism on ADI-R and ADOS-G; seizure disorder; father is GM20555; mother is GM20551. |
| 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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| 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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| Wang NJ, Liu D, Parokonny AS, Schanen NC, High-Resolution Molecular Characterization of 15q11-q13 Rearrangements by Array Comparative Genomic Hybridization (Array CGH) with Detection of Gene Dosage. Am J Hum Genet75:267-281 2004 |
| PubMed ID: 15197683 |
| Split Ratio |
1:3 |
| 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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