ID   2SOD1-1
AC   CVCL_ZY47
DR   Wikidata; Q102113437
RX   PubMed=30127392;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.His47Arg (c.140A>G) (H46R); ClinVar=VCV000014764; Zygosity=Unspecified (PubMed=30127392).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_ZY48 ! 2SOD1-4
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 6
//
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).
//