ID   WIMRi004-A
AC   CVCL_D6RM
SY   PKU_FIB_02406; GM02406 C15
DR   BioSamples; SAMEA115160192
DR   hPSCreg; WIMRi004-A
RX   PubMed=38555716;
CC   From: Westmead Institute for Medical Research; Sydney; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Phe299Cys (c.896T>G); ClinVar=VCV000000613; Zygosity=Heterozygous (PubMed=38555716).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Arg408Trp (c.1222C>T); ClinVar=VCV000000577; Zygosity=Heterozygous (PubMed=38555716).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C81315; Phenylketonuria
DI   ORDO; Orphanet_716; Phenylketonuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W148 ! GM02406
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38555716; DOI=10.1016/j.scr.2024.103405;
RA   Veleva D., Ay M., Ovchinnikov D.A., Prowse A.B.J., Menezes M.J.,
RA   Nafisinia M.;
RT   "Generation of fibroblast-derived induced pluripotent stem cell (iPSC)
RT   lines from two paediatric patients with phenylketonuria.";
RL   Stem Cell Res. 77:103405-103405(2024).
//