ID   CUBi001-A
AC   CVCL_IT59
DR   BioSamples; SAMEA103992830
DR   hPSCreg; CUBi001-A
DR   SKIP; SKIP002894
DR   Wikidata; Q54814852
RX   PubMed=28346228;
RX   PubMed=34119956;
CC   From: Charite, Universitatsmedizin Berlin; Berlin; Germany.
CC   Sequence variation: Mutation; HGNC; 1348; SAMD9; Simple; p.Arg685Gln (c.2054G>A); ClinVar=VCV000421898; Zygosity=Heterozygous; Note=De novo mutation (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)
SX   Male
AG   <1M
CA   Induced pluripotent stem cell
DT   Created: 03-03-17; Last updated: 29-06-23; Version: 13
//
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).
//