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GM16718 LCL from B-Lymphocyte

Description:

DELETED IN AZOOSPERMIA; DAZ
CHROMOSOME DELETION

Affected:

Yes

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Chromosome Abnormalities
dbGaP
Class Disorders of Uncertain Biochemical Etiology
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Vietnamese
Ethnicity VIETNAMESE
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Azoospermia; deletion of the AZFc region including the entire DAZ family by PCR and Southern blot hybridization

Characterizations

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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
 

Phenotypic Data

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Remarks Azoospermia; deletion of the AZFc region including the entire DAZ family by PCR and Southern blot hybridization

Publications

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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
 
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
 
Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, Naseeruddin S, de Kretser DM, Baker HW, McLachlan RI, et al, Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab81(4):1347-52 1996
PubMed ID: 8636331

External Links

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dbSNP dbSNP ID: 12380
Gene Cards DAZ1
Gene Ontology GO:0003723 RNA binding
GO:0005634 nucleus
GO:0007283 spermatogenesis
GO:0007338 fertilization (sensu Animalia)
NCBI Gene Gene ID:1617
NCBI GTR 400003 DELETED IN AZOOSPERMIA 1; DAZ1
OMIM 400003 DELETED IN AZOOSPERMIA 1; DAZ1
Omim Description DELETED IN AZOOSPERMIA; DAZ

Culture Protocols

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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 -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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