ID   WMUi018-A
AC   CVCL_A4XZ
SY   ABS-UiPSCs
DR   hPSCreg; WMUi018-A
DR   Wikidata; Q107117479
RX   PubMed=33631521;
CC   From: Wenzhou Medical University; Wenzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 9208; POR; Simple; p.Arg454His (c.1361G>A) (p.Arg457His, c.1370G>A); ClinVar=VCV000016907; Zygosity=Homozygous (PubMed=33631521).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C178415; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
DI   ORDO; Orphanet_63269; Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33631521; DOI=10.1016/j.scr.2021.102261;
RA   Guo X.-L., Wang D.-X., Shan X.-O., Yang L., Ding Y.-J., Chen H.-H.,
RA   Rong X., Chu M.-P., Lin J., Chen C.-D.;
RT   "Establishment of an induced pluripotent stem cell line from a
RT   Antley-Bixler syndrome (ABS) patient with the homozygote mutation
RT   p.R457H (c.1370G>A) in POR gene.";
RL   Stem Cell Res. 52:102261-102261(2021).
//