ID   RB8B
AC   CVCL_WR50
DR   Wikidata; Q98128837
RX   PubMed=24704492;
CC   From: Harvard University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:28337; C9orf72; Repeat_expansion; c.-45+163GGGGCC[>24] (GGGGCC repeat expansion); ClinVar=VCV000031151; 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; C168756; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 19-12-24; Version: 10
//
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).
//