ID   FALS-e54
AC   CVCL_RH78
DR   SKIP; SKIP000775
DR   Wikidata; Q54833234
RX   PubMed=26997647;
RX   PubMed=30127392;
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Asp (c.1549C>G); 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_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RH76 ! FALS-e46
OI   CVCL_RH77 ! FALS-e48
SX   Male
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 9
//
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).
//