ID   ALS-078
AC   CVCL_RL14
DR   Wikidata; Q54749300
RX   PubMed=24139042;
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24139042).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168756; Frontotemporal dementia and/or 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).
//