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Cellosaurus CUBi002-B (CVCL_IT60)

[Text version]
Cell line name CUBi002-B
Accession CVCL_IT60
Resource Identification Initiative To cite this cell line use: CUBi002-B (RRID:CVCL_IT60)
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 (PubMed=28346228).
Disease MIRAGE syndrome (NCIt: C147530)
MIRAGE syndrome (ORDO: Orphanet_494433)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XJ86 ! CUBi002-A
Sex of cell Male
Age at sampling 12Y
Category Induced pluripotent stem cell

PubMed=28346228; DOI=10.1172/JCI91913
Buonocore F., Kuhnen P., Suntharalingham J.P., Del Valle I., Digweed M., Stachelscheid H., Khajavi N., Didi M., Brady A.F., Blankenstein O., Procter A.M., Dimitri P., Wales J.K.H., Ghirri P., Knobl D., Strahm B., Erlacher M., Wlodarski M.W., Chen W., Kokai G.K., Anderson G., Morrogh D., Moulding D.A., McKee S.A., Niemeyer C.M., Gruters A., Achermann J.C.
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
J. Clin. Invest. 127:1700-1713(2017)

PubMed=34119956; DOI=10.1016/j.scr.2021.102417
Fischer I., Kuchler J., Schaar C., Fisch T., Cernoch J., Fischer K., Fernandez Vallone V., Kuhnen P., Stachelscheid H.
Generation of human induced pluripotent stem cell lines from 2 patients with MIRAGE syndrome.
Stem Cell Res. 54:102417-102417(2021)

Cell line databases/resources hPSCreg; CUBi002-B
SKIP; SKIP002902
Biological sample resources BioSamples; SAMEA103992832
Encyclopedic resources Wikidata; Q54814853
Entry history
Entry creation03-Mar-2017
Last entry update29-Jun-2023
Version number12