ID   19f
AC   CVCL_WR49
DR   Wikidata; Q93300682
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_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   54Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 10-04-25; Version: 11
//
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).
//