ID   UUIGPi005-A
AC   CVCL_WT82
SY   UUIGPi005A; UUIGPi005; MW1; MWS27(7)
DR   hPSCreg; UUIGPi005-A
DR   Wikidata; Q98134414
RX   PubMed=31376723;
CC   From: Department of Immunology, Genetics and Pathology, Uppsala University; Uppsala; Sweden.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14881; ZEB2; Simple; p.Arg343Ter (c.1027C>T); ClinVar=VCV000189281; Zygosity=Heterozygous (PubMed=31376723).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C74999; Mowat-Wilson syndrome
DI   ORDO; Orphanet_261552; Mowat-Wilson syndrome due to a ZEB2 point mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31376723; DOI=10.1016/j.scr.2019.101518;
RA   Schuster J., Sobol M., Fatima A., Khalfallah A., Laan L.,
RA   Anderlid B.-M., Nordgren A., Dahl N.;
RT   "Mowat-Wilson syndrome: generation of two human iPS cell lines
RT   (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene
RT   variant.";
RL   Stem Cell Res. 39:101518-101518(2019).
//