• Mutation; HGNC; HGNC:3542; F5; Simple; p.Arg534Gln (c.1601G>A) (R506Q); ClinVar=VCV000000642; Zygosity=Heterozygous; Note=Factor V Leiden (PubMed=16166172).
  
• Mutation; HGNC; HGNC:4886; HFE; Simple; p.His63Asp (c.187C>G); ClinVar=VCV000000010; Zygosity=Heterozygous (Coriell=GM18064).
  
• Mutation; HGNC; HGNC:4886; HFE; Simple; p.Cys282Tyr (c.845G>A); ClinVar=VCV000000009; Zygosity=Heterozygous (Coriell=GM18064).
  

PubMed=16166172; DOI=10.1373/clinchem.2005.048694
Susan H. Bernacki, Jeanne C. Beck, Ana K. Stankovic, Laurina O. Williams, Jean Amos Wilson, Karen Snow-Bailey, Daniel H. Farkas, Michael J. Friez, Feras M. Hantash, Karla J. Matteson, Kristin G. Monaghan ...Show all 26 authors... , Kasinathan Muralidharan, Victoria M. Pratt, Thomas W. Prior, Kristy L. Richie, Barbara C. Levin, Elizabeth M. Rohlfs, Frederick V. Schaefer, Antony E. Shrimpton, Elaine B. Spector, Catherine A. Stolle, Charles M. Strom, Stephen N. Thibodeau, Eugene C. Cole, Barbara K. Goodman, Timothy T. Stenzel; Show fewer authors
Genetically characterized positive control cell lines derived from residual clinical blood samples.
Clin. Chem. 51:2013-2024(2005)

PubMed=16244288; DOI=10.1373/clinchem.2005.048686
Susan H. Bernacki, Jeanne C. Beck, Kasinathan Muralidharan, Frederick V. Schaefer, Antony E. Shrimpton, Kristy L. Richie, Barbara C. Levin, Genevieve Pont-Kingdon, Timothy T. Stenzel;
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Clin. Chem. 51:2156-2159(2005)