ID   WIMRi001-A
AC   CVCL_D6RJ
SY   PKU_LCL_11195
DR   BioSamples; SAMEA115160099
DR   hPSCreg; WIMRi001-A
RX   PubMed=38552357;
CC   From: Westmead Institute for Medical Research; Sydney; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Ser196_Leu197insTer (p.Leu197Terfs) (c.590_612del23); ClinVar=VCV000102745; Zygosity=Heterozygous (PubMed=38552357).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; c.912+1G>A (IVS8+1G>A); ClinVar=VCV000092752; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=38552357).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C81315; Phenylketonuria
DI   ORDO; Orphanet_716; Phenylketonuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9R90 ! GM11195
SX   Male
AG   8Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38552357; DOI=10.1016/j.scr.2024.103407;
RA   Veleva D., Ay M., Ovchinnikov D.A., Prowse A.B.J., Menezes M.J.,
RA   Nafisinia M.;
RT   "Generation of two lymphoblastoid-derived induced pluripotent stem
RT   cell (iPSC) lines from patients with phenylketonuria.";
RL   Stem Cell Res. 77:103407-103407(2024).
//