GM18332
LCL from B-Lymphocyte
Description:
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
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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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Clinical summary/Case history
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ISCN
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46,XY.arr Yq11.222(19074170-23298583)x0,Yq11.23(26566630-26730518)x0
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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 |
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| Remarks |
Clinically affected; azoospermic; testicular maturation arrest at the primary spermatocyte level; no spermatids and no spermatozoa were identified; the following Y chromosome loci were analyzed by PCR: SRY+,RPS4Y+,ZFY+,RBMY+,PRKY+,AMELY+,PRY+,TSPY+,USP9Y+,VCY+,UTY+,TMSB4Y+,VCY+,CDY2+,XKRY+,SMCY-,EIF1AY-,RBMY1-,PRY-,DYS230-,BPY2+,DAZ+,CDY1+, and DYZ1+ |
| McIntyre KJ, Murphy E, Mertens L, Dubuc AM, Heim RA, Mason-Suares H, A Role for Chromosomal Microarray Testing in the Workup of Male Infertility The Journal of molecular diagnostics : JMD: 2019 |
| PubMed ID: 32615168 |
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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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| Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC, Rozen S, Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet71(4):906-22 2002 |
| PubMed ID: 12297986 |
| 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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