ID   FALS-e48
AC   CVCL_RH77
DR   SKIP; SKIP000777
DR   Wikidata; Q54833233
RX   PubMed=26997647;
RX   PubMed=30127392;
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Asp (c.1549C>G); ClinVar=VCV000016221; Zygosity=Heterozygous (PubMed=26997647).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
OI   CVCL_RH76 ! FALS-e46
OI   CVCL_RH78 ! FALS-e54
SX   Male
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 10-04-25; Version: 10
//
RX   PubMed=26997647; DOI=10.1016/j.stemcr.2016.02.011; PMCID=PMC4834049;
RA   Ichiyanagi N., Fujimori K., Yano M., Ishihara-Fujisaki C., Sone T.,
RA   Akiyama T., Okada Y., Akamatsu W., Matsumoto T., Ishikawa M.,
RA   Nishimoto Y., Ishihara Y., Sakuma T., Yamamoto T., Tsuiji H.,
RA   Suzuki N., Warita H., Aoki M., Okano H.;
RT   "Establishment of in vitro FUS-associated familial amyotrophic lateral
RT   sclerosis model using human induced pluripotent stem cells.";
RL   Stem Cell Reports 6:496-510(2016).
//
RX   PubMed=30127392; DOI=10.1038/s41591-018-0140-5;
RA   Fujimori K., Ishikawa M., Otomo A., Atsuta N., Nakamura R.,
RA   Akiyama T., Hadano S., Aoki M., Saya H., Sobue G., Okano H.;
RT   "Modeling sporadic ALS in iPSC-derived motor neurons identifies a
RT   potential therapeutic agent.";
RL   Nat. Med. 24:1579-1589(2018).
//