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Cellosaurus CUBi001-A (CVCL_IT59)

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Cell line name CUBi001-A
Accession CVCL_IT59
Resource Identification Initiative To cite this cell line use: CUBi001-A (RRID:CVCL_IT59)
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; HGNC:1348; SAMD9; Simple; p.Arg685Gln (c.2054G>A); ClinVar=VCV000421898; Zygosity=Heterozygous; Note=De novo mutation (PubMed=28346228).
Disease MIRAGE syndrome (NCIt: C147530)
MIRAGE syndrome (ORDO: Orphanet_494433)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling <1M
Category Induced pluripotent stem cell
Publications

PubMed=28346228; DOI=10.1172/JCI91913; PMCID=PMC5409795
Federica Buonocore, Peter Kuhnen, Jenifer P. Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F. Brady, Oliver Blankenstein, Annie M. Procter ...Show all 27 authors... , Paul Dimitri, Jerry K.H. Wales, Paolo Ghirri, Dieter Knobl, Brigitte Strahm, Miriam Erlacher, Marcin W. Wlodarski, Wei Chen, George K. Kokai, Glenn Anderson, Deborah Morrogh, Dale A. Moulding, Shane A. McKee, Charlotte M. Niemeyer, Annette Gruters-Kieslich, John C. Achermann; Show fewer authors
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
Iris Fischer, Judit Kuchler, Claudia Schaar, Tanja Fisch, Janine Cernoch, Kristin Fischer, Valeria B. Fernandez-Vallone, Peter Kuhnen, Harald Stachelscheid;
Generation of human induced pluripotent stem cell lines from 2 patients with MIRAGE syndrome.
Stem Cell Res. 54:102417-102417(2021)

Cross-references
Cell line databases/resources hPSCreg; CUBi001-A
SKIP; SKIP002894
Biological sample resources BioSamples; SAMEA103992830
Encyclopedic resources Wikidata; Q54814852
Entry history
Entry creation03-Mar-2017
Last entry update19-Dec-2024
Version number14