ID   FALS-2e2
AC   CVCL_RH73
DR   SKIP; SKIP000774
DR   Wikidata; Q54833229
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_RH74 ! FALS-2e3
OI   CVCL_RH75 ! FALS-2e23
SX   Male
AG   42Y
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).
//