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Cellosaurus CUBi002-A (CVCL_XJ86)

[Text version]
Cell line name CUBi002-A
Accession CVCL_XJ86
Resource Identification Initiative To cite this cell line use: CUBi002-A (RRID:CVCL_XJ86)
Comments From: Charite, Universitatsmedizin Berlin; Berlin; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 1348; SAMD9; Simple; p.Ile983Ser (c.2948T>G); Zygosity=Heterozygous (from autologous cell line CUBi002-B).
Disease MIRAGE syndrome (NCIt: C147530)
MIRAGE syndrome (ORDO: Orphanet_494433)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_IT60 ! CUBi002-B
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; CUBi002-A
Encyclopedic resources Wikidata; Q93460512
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9