GM18339
LCL from B-Lymphocyte
Description:
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
arr Yq11.223q11.23(24138442-26566631)x0
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Remarks |
Clinically affected; azoospermic; Sertoli cell only; sperm detected in testicular biopsy sample; 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+ |
| 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 |
| |
| Oates RD, Silber S, Brown LG, Page DC, Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI Hum Reprod17(11):2813-24 2002 |
| PubMed ID: 12407032 |
| |
| 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 |
| |
| 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 |
| |
| Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, et al, Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet10(4):383-93 1995 |
| PubMed ID: 7670487 |
| Split Ratio |
1:2 |
| 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 |
- |
|
|