• Mutation; HGNC; 8582; PAH; Simple; p.Phe39Leu (c.117C>G); ClinVar=VCV000000605; Zygosity=Heterozygous (Coriell=GM00937).
  
• Mutation; HGNC; 8582; PAH; Simple; c.1066-11G>A (IVS10-11G>A); ClinVar=VCV000000607; Zygosity=Heterozygous (Coriell=GM00937).
  

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)

CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986)

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=38555716; DOI=10.1016/j.scr.2024.103405
Veleva D., Ay M., Ovchinnikov D.A., Prowse A.B.J., Menezes M.J., Nafisinia M.
Generation of fibroblast-derived induced pluripotent stem cell (iPSC) lines from two paediatric patients with phenylketonuria.
Stem Cell Res. 77:103405-103405(2024)