Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes

被引：7

作者：

Bernacki, SH

Beck, JC

Muralidharan, K

Schaefer, FV

Shrimpton, AE

Richie, KL

Levin, BC

Pont-Kingdon, G

Stenzel, TT

机构：

[1] Department of Pathology, Duke University Medical Center, Durham, NC

[2] Coriell Cell Repositories, Coriell Institute for Medical Research, Camden, NJ

[3] Department of Human Genetics, Emory University School of Medicine, Atlanta, GA

[4] Center for Genetic Testing at Saint Francis, Tulsa, OK

[5] Department of Pathology, State University of New York Upstate Medical University, Syracuse, NY

[6] DNA Technologies Group, National Institute of Standards and Technology, Gaithersburg, MD

[7] ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT

[8] Department of Biomedical Engineering, North Carolina State University, Raleigh, NC

[9] Abbott Molecular, Des Plaines, IL 60016

来源：

CLINICAL CHEMISTRY | 2005年 / 51卷 / 11期

关键词：

D O I：

10.1373/clinchem.2005.048686

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

[No abstract available]

引用

页码：2156 / 2159

页数：4

共 22 条

[1]

[Anonymous], GENETESTS

[2] Genetically characterized positive control cell lines derived from residual clinical blood samples [J].

Bernacki, SH ;

Beck, JC ;

Stankovic, AK ;

Laurina, LO ;

Amos, J ;

Snow-Bailey, K ;

Farkas, DH ;

Friez, MJ ;

Hantash, FM ;

Matteson, KJ ;

Monaghan, MG ;

Muralidharan, K ;

Pratt, VM ;

Prior, TW ;

Richie, KL ;

Levin, BC ;

Rohlfs, EM ;

Schaefer, FV ;

Shrimpton, AE ;

Spector, EB ;

Stolle, CA ;

Strom, CM ;

Thibodeau, SN ;

Cole, EC ;

Goodman, BK ;

Stenzel, TT .

CLINICAL CHEMISTRY, 2005, 51 (11) :2013-2024

[3] Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing [J].

Bernacki, SH ;

Stankovic, AK ;

Williams, LO ;

Beck, JC ;

Herndon, JE ;

Snow-Bailey, K ;

Prior, TW ;

Matteson, KJ ;

Wasserman, LM ;

Cole, EC ;

Stenzel, TT .

JOURNAL OF MOLECULAR DIAGNOSTICS, 2003, 5 (04) :227-230

[4]

Brown NM, 2001, CLIN CHEM, V47, P2053

[5]

*CYST FIBR GEN AN, CYST FIBR MUT DAT

[6] Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis [J].

Danziger, KL ;

Black, LD ;

Keiles, SB ;

Kammesheidt, A ;

Turek, PJ .

HUMAN REPRODUCTION, 2004, 19 (03) :540-546

[7] LENGTH OF UNINTERRUPTED CGG REPEATS DETERMINES INSTABILITY IN THE FMR1 GENE [J].

EICHLER, EE ;

HOLDEN, JJA ;

POPOVICH, BW ;

REISS, AL ;

SNOW, K ;

THIBODEAU, SN ;

RICHARDS, CS ;

WARD, PA ;

NELSON, DL .

NATURE GENETICS, 1994, 8 (01) :88-94

[8] A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis [J].

Feder, JN ;

Gnirke, A ;

Thomas, W ;

Tsuchihashi, Z ;

Ruddy, DA ;

Basava, A ;

Dormishian, F ;

Domingo, R ;

Ellis, MC ;

Fullan, A ;

Hinton, LM ;

Jones, NL ;

Kimmel, BE ;

Kronmal, GS ;

Lauer, P ;

Lee, VK ;

Loeb, DB ;

Mapa, FA ;

McClelland, E ;

Meyer, NC ;

Mintier, GA ;

Moeller, N ;

Moore, T ;

Morikang, E ;

Prass, CE ;

Quintana, L ;

Starnes, SM ;

Schatzman, RC ;

Brunke, KJ ;

Drayna, DT ;

Risch, NJ ;

Bacon, BR ;

Wolff, RK .

NATURE GENETICS, 1996, 13 (04) :399-408

[9] Analysis of the 677 C→T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups [J].

Franco, RF ;

Araújo, AG ;

Guerreiro, JF ;

Elion, J ;

Zago, MA .

THROMBOSIS AND HAEMOSTASIS, 1998, 79 (01) :119-121

[10] A CANDIDATE GENETIC RISK FACTOR FOR VASCULAR-DISEASE - A COMMON MUTATION IN METHYLENETETRAHYDROFOLATE REDUCTASE [J].

FROSST, P ;

BLOM, HJ ;

MILOS, R ;

GOYETTE, P ;

SHEPPARD, CA ;

MATTHEWS, RG ;

BOERS, GJH ;

DENHEIJER, M ;

KLUIJTMANS, LAJ ;

VANDENHEUVEL, LP ;

ROZEN, R .

NATURE GENETICS, 1995, 10 (01) :111-113

← 1 2 3 →