ID   39b
AC   CVCL_X725
SY   39b-ALS
DR   Wikidata; Q54585255
RX   PubMed=24704492;
CC   From: Harvard University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (PubMed=24704492).
CC   Derived from site: In situ; Forearm, skin, dermis; UBERON=UBERON_0003403+UBERON_0002067.
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   Female
AG   44Y
CA   Induced pluripotent stem cell
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 16
//
RX   PubMed=24704492; DOI=10.1016/j.stem.2014.03.004; PMCID=PMC4653065;
RA   Kiskinis E., Sandoe J., Williams L.A., Boulting G.L., Moccia R.,
RA   Wainger B.J., Han S., Peng T., Thams S., Mikkilineni S., Mellin C.,
RA   Merkle F.T., Davis-Dusenbery B.N., Ziller M.J., Oakley D.H., Ichida J.K.,
RA   Di Costanzo S., Atwater N., Maeder M.L., Goodwin M.J., Nemesh J.,
RA   Handsaker R.E., Paull D.J., Noggle S.A., McCarroll S.A., Joung J.K.,
RA   Woolf C.J., Brown R.H., Eggan K.C.;
RT   "Pathways disrupted in human ALS motor neurons identified through
RT   genetic correction of mutant SOD1.";
RL   Cell Stem Cell 14:781-795(2014).
//