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; 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: 19-12-24; Version: 3
//
RX   PubMed=38350246; DOI=10.1016/j.scr.2024.103333;
RA   Gorrieri, Giulia
RA   Tamburro, Serena
RA   Baldassari, Simona
RA   Guerrisi, Sara
RA   Zara, Federico
RA   Ricci, Emilia
RA   Cordelli, Duccio Maria
RA   Scudieri, Paolo
RA   Musante, Ilaria
RT   "Generation of two iPSC lines from Mowat-Wilson syndrome patients
RT   carrying heterozygous ZEB2 mutations.";
RL   Stem Cell Res. 76:103333-103333(2024).
//