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 |
| 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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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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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; severely oligoasthenoteratozoospermic; repeated semen analyses yielded sperm counts 0f 50,000-100,000/ml with 20-30% of sperm motile and only 10% with normal morphology; apart from infertility, donor appeared in good health; 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+ |
| Pettersson L, Westerling S, Talla V, Sendel A, Wennberg L, Olsson R, Hedrum A, Hauzenberger D, Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation Clinica chimica acta; international journal of clinical chemistry552:117647 2023 |
| PubMed ID: 37951377 |
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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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| Park MY, Kang HM, Hwang SH, Park HJ, Park NC, Choi KU, Kim HH, Chang CL, and Lee EY.
, Evaluation of a multiplex PCR kit used for detecting Y chromosome microdeletions]. Korean J Lab Med30(4):432-9 2010 |
| PubMed ID: 20805717 |
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| Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC, The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet29(3):279-86 2001 |
| PubMed ID: 11687796 |
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| Reijo R, Alagappan RK, Patrizio P, Page DC, Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet347(9011):1290-3 1996 |
| PubMed ID: 8622504 |
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