ID   ALS-028
AC   CVCL_RL08
DR   SKIP; SKIP001318
DR   Wikidata; Q54749285
RX   PubMed=24139042;
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Unspecified (PubMed=24139042).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=24139042; DOI=10.1016/j.neuron.2013.10.015; PMCID=PMC4098943;
RA   Donnelly C.J., Zhang P.-W., Pham J.T., Haeusler A.R., Mistry N.A.,
RA   Vidensky S., Daley E.L., Poth E.M., Hoover B., Fines D.M.,
RA   Maragakis N.J., Tienari P.J., Petrucelli L., Traynor B.J., Wang J.,
RA   Rigo F., Bennett C.F., Blackshaw S., Sattler R., Rothstein J.D.;
RT   "RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by
RT   antisense intervention.";
RL   Neuron 80:415-428(2013).
//