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Cellosaurus IGGi001-B (CVCL_C7FU)

[Text version]
Cell line name IGGi001-B
Accession CVCL_C7FU
Resource Identification Initiative To cite this cell line use: IGGi001-B (RRID:CVCL_C7FU)
Comments From: IRCCS Istituto Giannina Gaslini; Genova; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene deletion; HGNC; 14234; NSD1; Zygosity=Unspecified; Note=5q35.2q35.3 microdeletion (PubMed=36580887).
Disease Sotos syndrome (NCIt: C75019)
Sotos syndrome (ORDO: Orphanet_821)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C7FT ! IGGi001-A
Sex of cell Female
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=36580887; DOI=10.1016/j.scr.2022.103007
Conteduca G., Baldo C., Arado A., Traverso M., Testa B., Malacarne M., Coviello D.A., Zara F., Baldassari S.
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion.
Stem Cell Res. 66:103007-103007(2023)

Cross-references
Cell line databases/resources hPSCreg; IGGi001-B
Biological sample resources BioSamples; SAMEA113595160
Encyclopedic resources Wikidata; Q117704523
Entry history
Entry creation21-Mar-2023
Last entry update02-May-2024
Version number4