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Cellosaurus IGGi005-A (CVCL_D6MR)

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Cell line name IGGi005-A
Synonyms ZEB2 case 2
Accession CVCL_D6MR
Resource Identification Initiative To cite this cell line use: IGGi005-A (RRID:CVCL_D6MR)
Comments From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:14881; ZEB2; Simple; p.Arg218Argfs*21 (c.653_654insACCG); Zygosity=Heterozygous (PubMed=38350246).
Disease Mowat-Wilson syndrome (NCIt: C74999)
Mowat-Wilson syndrome due to a ZEB2 point mutation (ORDO: Orphanet_261552)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 15Y
Category Induced pluripotent stem cell
Publications

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

Cross-references
Cell line databases/resources hPSCreg; IGGi005-A
Biological sample resources BioSamples; SAMEA114786370
Encyclopedic resources Wikidata; Q127382325
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3