ID   NJMUi001-A
AC   CVCL_VE08
SY   iPKU-C10
DR   hPSCreg; NJMUi001-A
DR   Wikidata; Q54930653
RX   PubMed=29154227;
CC   From: Obstetrics and Gynecology Hospital, Nanjing Medical University; Nanjing; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Arg111Ter (c.331C>T); ClinVar=VCV000000581; Zygosity=Heterozygous (PubMed=29154227).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Tyr325Ter (c.975C>G); ClinVar=VCV000102921; Zygosity=Heterozygous (PubMed=29154227).
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)
SX   Male
AG   3M
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29154227; DOI=10.1016/j.scr.2017.11.008;
RA   Xu T.-H., Liang D., Zhang J.-J., Ji X.-Q., Hu H.-R., Sun Y., Jiang T.,
RA   Wang X., Hu P., Xu Z.-F.;
RT   "Generation of integration-free induced pluripotent stem cell line
RT   (NJMUi001-A) from a phenylketonuria patient.";
RL   Stem Cell Res. 25:179-182(2017).
//