ID   WIMRi002-A
AC   CVCL_D6RK
SY   PKU_LCL_01565
DR   BioSamples; SAMEA115160101
DR   hPSCreg; WIMRi002-A
RX   PubMed=38552357;
CC   From: Westmead Institute for Medical Research; Sydney; Australia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2501; CTH; Simple; p.Thr67Ile (c.200C>T); ClinVar=VCV000002939; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Arg252Gln (c.755G>A); ClinVar=VCV000102824; Zygosity=Heterozygous (PubMed=38552357).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; c.1315+1G>A (IVS12+1G>A); ClinVar=VCV000000576; 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; C129070; Cystathioninuria
DI   NCIt; C81315; Phenylketonuria
DI   ORDO; Orphanet_212; Cystathioninuria
DI   ORDO; Orphanet_716; Phenylketonuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9R62 ! GM01565
SX   Female
AG   16Y
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).
//