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Cellosaurus OSRi009-A (CVCL_A0XY)

[Text version]
Cell line name OSRi009-A
Synonyms SGS_D868N
Accession CVCL_A0XY
Resource Identification Initiative To cite this cell line use: OSRi009-A (RRID:CVCL_A0XY)
Comments From: Ospedale San Raffaele; Milan; Italy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 15573; SETBP1; Simple; p.Asp868Asn (c.2602G>A); ClinVar=VCV000001032; Zygosity=Heterozygous (hPSCreg=OSRi009-A).
Disease Schinzel-Giedion midface-retraction syndrome (NCIt: C129308)
Schinzel-Giedion syndrome (ORDO: Orphanet_798)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A0XZ (OSRi009-A-1)
Sex of cell Male
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; OSRi009-A
Biological sample resources BioSamples; SAMEA9679952
Encyclopedic resources Wikidata; Q108821078
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number6