ID   ALS-075
AC   CVCL_RL12
SY   ALS75; HEL15.14; UHi003-A
DR   BioSamples; SAMEA5236711
DR   hPSCreg; UHi003-A
DR   SKIP; SKIP001313
DR   Wikidata; Q54749294
RX   PubMed=24139042;
CC   Sequence variation: Mutation; HGNC; 28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; Zygosity=Unspecified (PubMed=24139042).
CC   Omics: Transcriptome analysis.
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 17-03-22; Version: 8
//
RX   PubMed=24139042; DOI=10.1016/j.neuron.2013.10.015;
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).
//