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Cellosaurus IGGi003-A (CVCL_D6MP)

[Text version]
Cell line name IGGi003-A
Accession CVCL_D6MP
Resource Identification Initiative To cite this cell line use: IGGi003-A (RRID:CVCL_D6MP)
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
  • Mutation; HGNC; HGNC:14234; NSD1; Simple; p.Thr545Argfs*10 (c.1633delA); Zygosity=Heterozygous; Note=De novo mutation (PubMed=38301425).
Disease Sotos syndrome (NCIt: C75019)
Sotos syndrome (ORDO: Orphanet_821)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 17Y
Category Induced pluripotent stem cell
Publications

PubMed=38301425; DOI=10.1016/j.scr.2024.103324
Conteduca G., Baldo C., Arado A., da Silva J.S.M., Testa B., Baldassari S., Zara F., Filaci G., Coviello D.A., Malacarne M.
Generation of IGGi003-A induced pluripotent stem cell line from a patient with Sotos syndrome carrying c.1633delA NSD1 variant in exon 5.
Stem Cell Res. 76:103324-103324(2024)

Cross-references
Cell line databases/resources hPSCreg; IGGi003-A
Biological sample resources BioSamples; SAMEA114498470
Encyclopedic resources Wikidata; Q127382323
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3