• Mutation; HGNC; HGNC:2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Homozygous (Coriell=GM01565).
  
• Mutation; HGNC; HGNC:8582; PAH; Simple; p.Arg252Gln (c.755G>A); ClinVar=VCV000102824; Zygosity=Heterozygous (Coriell=GM01565).
  
• Mutation; HGNC; HGNC:8582; PAH; Simple; c.1315+1G>A (IVS12+1G>A); ClinVar=VCV000000576; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM01565).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=38552357; DOI=10.1016/j.scr.2024.103407
Veleva D., Ay M., Ovchinnikov D.A., Prowse A.B.J., Menezes M.J., Nafisinia M.
Generation of two lymphoblastoid-derived induced pluripotent stem cell (iPSC) lines from patients with phenylketonuria.
Stem Cell Res. 77:103407-103407(2024)