Cellosaurus cell line CUBi002-B (CVCL

Cellosaurus CUBi002-B (CVCL_IT60)

Cross-references
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; 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
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-Kieslich 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)
Cell line databases/resources	hPSCreg; CUBi002-B SKIP; SKIP002902
Biological sample resources	BioSamples; SAMEA103992832
Encyclopedic resources	Wikidata; Q54814853
Entry history
Entry creation	03-Mar-2017
Last entry update	19-Dec-2024
Version number	13