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Cellosaurus OSRi010-A (CVCL_A0YA)

[Text version]
Cell line name OSRi010-A
Synonyms SGS_I871T
Accession CVCL_A0YA
Resource Identification Initiative To cite this cell line use: OSRi010-A (RRID:CVCL_A0YA)
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.Ile871Thr (c.2612T>C); ClinVar=VCV000001031; Zygosity=Heterozygous (hPSCreg=OSRi010-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_A0YB (OSRi010-A-1)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; OSRi010-A
Biological sample resources BioSamples; SAMEA9686048
Encyclopedic resources Wikidata; Q108821081
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number6