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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.
Sequence variations Heterozygous for SAMD9 p.Arg685Gln (c.2054G>A) (PubMed=28346228).
Disease MIRAGE syndrome (NCIt: C147530)
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
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)

Cross-references
Cell line databases/resources hPSCreg; CUBi001-A
SKIP; SKIP002894
Biological sample resources BioSamples; SAMEA103992830
Other Wikidata; Q54814852
Entry history
Entry creation03-Mar-2017
Last entry updated25-Feb-2019
Version number4