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Cellosaurus CUBi001-A (CVCL_IT59)

[Text version]
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; 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
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.B., 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)

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 update29-Jun-2023
Version number13