ID   CUBi002-B
AC   CVCL_IT60
DR   BioSamples; SAMEA103992832
DR   hPSCreg; CUBi002-B
DR   SKIP; SKIP002902
DR   Wikidata; Q54814853
RX   PubMed=28346228;
RX   PubMed=34119956;
CC   From: Charite, Universitatsmedizin Berlin; Berlin; Germany.
CC   Sequence variation: Mutation; HGNC; 1348; SAMD9; Simple; p.Ile983Ser (c.2948T>G); Zygosity=Heterozygous (PubMed=28346228).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C147530; MIRAGE syndrome
DI   ORDO; Orphanet_494433; MIRAGE syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_XJ86 ! CUBi002-A
SX   Male
AG   12Y
CA   Induced pluripotent stem cell
DT   Created: 03-03-17; Last updated: 29-06-23; Version: 12
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RX   PubMed=28346228; DOI=10.1172/JCI91913;
RA   Buonocore F., Kuhnen P., Suntharalingham J.P., Del Valle I.,
RA   Digweed M., Stachelscheid H., Khajavi N., Didi M., Brady A.F.,
RA   Blankenstein O., Procter A.M., Dimitri P., Wales J.K.H., Ghirri P.,
RA   Knobl D., Strahm B., Erlacher M., Wlodarski M.W., Chen W., Kokai G.K.,
RA   Anderson G., Morrogh D., Moulding D.A., McKee S.A., Niemeyer C.M.,
RA   Gruters A., Achermann J.C.;
RT   "Somatic mutations and progressive monosomy modify SAMD9-related
RT   phenotypes in humans.";
RL   J. Clin. Invest. 127:1700-1713(2017).
//
RX   PubMed=34119956; DOI=10.1016/j.scr.2021.102417;
RA   Fischer I., Kuchler J., Schaar C., Fisch T., Cernoch J., Fischer K.,
RA   Fernandez-Vallone V., Kuhnen P., Stachelscheid H.;
RT   "Generation of human induced pluripotent stem cell lines from 2
RT   patients with MIRAGE syndrome.";
RL   Stem Cell Res. 54:102417-102417(2021).
//