GM13019
LCL from B-Lymphocyte
Description:
TURNER SYNDROME
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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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,X,idic(X)(p10)[25]/46,X,del(X)(p10)[16]/45,X[9].arr Xp22.33p11.1(108464-56912309)x1,Xp11.1q28(62260103-153703648)x2˜3
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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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| CNVPANEL |
For more information click here:CNVPANEL01 |
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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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| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (+)Xqter>Xq10 |
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Chromosome X: DELETION Aneuploid Segment (-)Xpter>Xp10 |
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Chromosome X: DELETION Trisomic Segment Xqter>Xq10 |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (+)Xqter>Xq10 |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (-)Xpter>Xp10 |
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Chromosome X: ISOCHROMOSOME Trisomic Segment Xqter>Xq10 |
| Remarks |
Turner syndrome; 45,X/46,X,del(X)(p0)/ 46,X,i(Xq), 7%/50%/43% in PBL; 18%/32%/ 50% in lymphoblast culture |
| 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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| 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 |
1:4 |
| 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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