• Mutation; HGNC; 20893; BCOR; Simple; p.Gln348Ter (c.1042C>T); Zygosity=Heterozygous (PubMed=31813827).
  

PubMed=28489815; DOI=10.1038/nature22403
Kilpinen H., Goncalves A., Leha A., Afzal V., Alasoo K., Ashford S., Bala S., Bensaddek D., Casale F.P., Culley O.J., Danecek P., Faulconbridge A., Harrison P.W., Kathuria A., McCarthy D., McCarthy S.A., Meleckyte R., Memari Y., Moens N., Soares F., Mann A., Streeter I., Agu C.A., Alderton A., Nelson R., Harper S., Patel M.J., White A., Patel S.R., Clarke L., Halai R., Kirton C.M., Kolb-Kokocinski A., Beales P., Birney E., Danovi D., Lamond A.I., Ouwehand W.H., Vallier L., Watt F.M., Durbin R., Stegle O., Gaffney D.J.
Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature 546:370-375(2017)

PubMed=31813827; DOI=10.1016/j.stemcr.2019.11.003
Hildebrandt M.R., Reuter M.S., Wei W., Tayebi N., Liu J.-J., Sharmin S., Mulder J., Lesperance L.S., Brauer P.M., Mok R.S.-F., Kinnear C., Piekna A., Romm A., Howe J., Pasceri P., Meng G.-L., Rozycki M., Rodrigues D.C., Martinez E.C., Szego M.J., Zuniga-Pflucker J.C., Anderson M.K., Prescott S.A., Rosenblum N.D., Kamath B.M., Mital S., Scherer S.W., Ellis J.
Precision health resource of control iPSC lines for versatile multilineage differentiation.
Stem Cell Reports 13:1126-1141(2019)