ID   IGGi004-A
AC   CVCL_D6MQ
SY   ZEB2 case 1
DR   BioSamples; SAMEA114786339
DR   hPSCreg; IGGi004-A
DR   Wikidata; Q127382324
RX   PubMed=38350246;
CC   From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 14881; ZEB2; Simple; p.Leu894Phefs*36 (c.2682delA); ClinVar=VCV002687500; Zygosity=Heterozygous (PubMed=38350246).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   Female
AG   6Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 10-09-24; Version: 2
//
RX   PubMed=38350246; DOI=10.1016/j.scr.2024.103333;
RA   Gorrieri G., Tamburro S., Baldassari S., Guerrisi S., Zara F.,
RA   Ricci E., Cordelli D.M., Scudieri P., Musante I.;
RT   "Generation of two iPSC lines from Mowat-Wilson syndrome patients
RT   carrying heterozygous ZEB2 mutations.";
RL   Stem Cell Res. 76:103333-103333(2024).
//