• Mutation; HGNC; HGNC:12442; TYR; Simple; p.Arg402Gln (c.1205G>A); ClinVar=VCV000003779; Zygosity=Homozygous (PubMed=35933957).
  

PubMed=28489815; DOI=10.1038/nature22403; PMCID=PMC5524171
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=35933957; DOI=10.1016/j.scr.2022.102880
Liu J.-S., Black G.C., Kimber S.J., Sergouniotis P.I.
Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing.
Stem Cell Res. 64:102880-102880(2022)