ID   FUS2 corrected
AC   CVCL_VF87
SY   ISOGENIC CNTL; R495QfsX527c.1483insC
DR   SKIP; SKIP001734
DR   Wikidata; Q54835273
RX   PubMed=28082870;
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple_corrected; p.Arg495Glufs*34 (c.1483delC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28082870).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_VF86 ! FUS2
SX   Male
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 10-04-25; Version: 13
//
RX   PubMed=28082870; DOI=10.3389/fncel.2016.00290; PMCID=PMC5183648;
RA   Higelin J., Demestre M., Putz S., Delling J.P., Jacob C., Lutz A.-K.,
RA   Bausinger J., Huber A.-K., Klingenstein M., Barbi G., Speit G.,
RA   Huebers A., Weishaupt J.H., Hermann A., Liebau S., Ludolph A.C.,
RA   Boeckers T.M.;
RT   "FUS mislocalization and vulnerability to DNA damage in ALS patients
RT   derived hiPSCs and aging motoneurons.";
RL   Front. Cell. Neurosci. 10:290.1-290.21(2016).
//