scholarly journals Utilizing CRISPR/Cas9 technology to prepare lymphoblastoid cell lines harboring genetic mutations for generating quality control materials in genetic testing

2020 ◽  
Vol 34 (7) ◽  
Author(s):  
Li Zhou ◽  
Rui Li ◽  
Runling Zhang ◽  
Rongxue Peng ◽  
Kun Chen ◽  
...  
Keyword(s):  
Quality Control ◽  
Genetic Testing ◽  
Cell Lines ◽  
Genetic Mutations ◽  
Lymphoblastoid Cell Lines ◽  
Quality Control Materials

scholarly journals Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

2005 ◽  
Vol 7 (8) ◽  
pp. 534-549 ◽  
Author(s):  
Bin Chen ◽  
Catherine D O'Connell ◽  
D Joe Boone ◽  
Jean A Amos ◽  
Jeanne C Beck ◽  
...  
Keyword(s):  
Quality Control ◽  
Genetic Testing ◽  
Quality Control Materials

Quality control materials for pharmacogenomic testing in the clinic

2017 ◽  
Vol 55 (7) ◽  
Author(s):  
Guigao Lin ◽  
Kuo Zhang ◽  
Yanxi Han ◽  
Jinming Li
Keyword(s):  
Clinical Pharmacology ◽  
Quality Control ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Treatment Decisions ◽  
The Novel ◽  
Next Generation ◽  
Technological Complexity ◽  
Quality Control Materials ◽  
Generation Sequencing

AbstractPharmacogenomics has significantly added to our understanding of drug responses in clinical pharmacology, changing the paradigm of treatment decisions. Interrogations of both inherited and somatic variations for therapeutic purposes are increasingly being adopted in clinics, where quality control (QC) materials are required. However, for many pharmacogenomic tests, the acquisition of well-characterized QC materials is often difficult or impossible. In this review, several sources of appropriate QC materials for therapy-associated genetic testing are discussed. Among them, the novel methods for producing renewable controls that resemble patient samples are highlighted. Owing to technological complexity, more efforts are needed to develop proper controls for next-generation sequencing-based assay.

MicroRNAs in Human Lymphoblastoid Cell Lines

2012 ◽  
Vol 22 (3) ◽  
pp. 189-196 ◽  
Author(s):  
Sung-Mi Shim ◽  
Hye-Young Nam ◽  
Jae-Eun Lee ◽  
Jun-Woo Kim ◽  
Bok-Ghee Han ◽  
...  
Keyword(s):  
Cell Lines ◽  
Lymphoblastoid Cell Lines ◽  
Human Lymphoblastoid Cell ◽  
Human Lymphoblastoid Cell Lines

Establishment and characterization of Macaca fascicularis lymphoblastoid cell lines

1992 ◽  
Vol 21 (1) ◽  
pp. 15-23
Author(s):  
Carolina H. Manning ◽  
Eugene R. Heise
Keyword(s):  
Cell Lines ◽  
Macaca Fascicularis ◽  
Lymphoblastoid Cell Lines

scholarly journals No defect in G1/S cell cycle arrest in irradiated Li-Fraumeni lymphoblastoid cell lines

1996 ◽  
Vol 74 (5) ◽  
pp. 698-703 ◽  
Author(s):  
KJ Williams ◽  
J Heighway ◽  
JM Birch ◽  
JD Norton ◽  
D Scott
Keyword(s):  
Cell Cycle ◽  
Cell Cycle Arrest ◽  
Cell Lines ◽  
Lymphoblastoid Cell Lines ◽  
Cycle Arrest ◽  
Li Fraumeni

scholarly journals A genome-wide association analysis of temozolomide response using lymphoblastoid cell lines shows a clinically relevant association with MGMT

2012 ◽  
Vol 22 (11) ◽  
pp. 796-802 ◽  
Author(s):  
Chad C. Brown ◽  
Tammy M. Havener ◽  
Marisa W. Medina ◽  
J. Todd Auman ◽  
Lara M. Mangravite ◽  
...  
Keyword(s):  
Cell Lines ◽  
Association Analysis ◽  
Genome Wide Association ◽  
Lymphoblastoid Cell Lines ◽  
Genome Wide Association Analysis ◽  
Genome Wide ◽  
A Genome

scholarly journals Focal segmental glomerulosclerosis is associated with a PDSS2 haplotype and, independently, with a decreased content of coenzyme Q10

2013 ◽  
Vol 305 (8) ◽  
pp. F1228-F1238 ◽  
Author(s):  
David L. Gasser ◽  
Cheryl A. Winkler ◽  
Min Peng ◽  
Ping An ◽  
Louise M. McKenzie ◽  
...  
Keyword(s):  
Focal Segmental Glomerulosclerosis ◽  
Cell Lines ◽  
Coenzyme Q ◽  
Lymphoblastoid Cell Lines ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Collapsing Glomerulopathy ◽  
Segmental Glomerulosclerosis ◽  
Increased Risk ◽  
Common Causes

Focal segmental glomerulosclerosis (FSGS) and collapsing glomerulopathy are common causes of nephrotic syndrome. Variants in >20 genes, including genes critical for mitochondrial function, have been associated with these podocyte diseases. One such gene, PDSS2, is required for synthesis of the decaprenyl tail of coenzyme Q10 (Q10) in humans. The mouse gene Pdss2 is mutated in the kd/kd mouse model of collapsing glomerulopathy. We examined the hypothesis that human PDSS2 polymorphisms are associated with podocyte diseases. We genotyped 377 patients with primary FSGS or collapsing glomerulopathy, together with 900 controls, for 9 single-nucleotide polymorphisms in the PDSS2 gene in a case-control study. Subjects included 247 African American (AA) and 130 European American (EA) patients and 641 AA and 259 EA controls. Among EAs, a pair of proxy SNPs was significantly associated with podocyte disease, and patients homozygous for one PDSS2 haplotype had a strongly increased risk for podocyte disease. By contrast, the distribution of PDSS2 genotypes and haplotypes was similar in AA patients and controls. Thus a PDSS2 haplotype, which has a frequency of 13% in the EA control population and a homozygote frequency of 1.2%, is associated with a significantly increased risk for FSGS and collapsing glomerulopathy in EAs. Lymphoblastoid cell lines from FSGS patients had significantly less Q10 than cell lines from controls; contrary to expectation, this finding was independent of PDSS2 haplotype. These results suggest that FSGS patients have Q10 deficiency and that this deficiency is manifested in patient-derived lymphoblastoid cell lines.

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