ID   ND39034
AC   CVCL_Y825
SY   ND39034*C
DR   Coriell; ND39034
DR   NHCDR; ND39034
DR   SKIP; SKIP001084
DR   SKIP; SKIP004713
DR   Wikidata; Q54930102
RX   PubMed=25760436;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.Arg522Arg (c.1566G>A); ClinVar=VCV000540280; Zygosity=Unspecified; Note=Mislocalized protein (from parent cell line).
CC   Discontinued: Coriell; ND39034; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y894 ! ND29563
SX   Male
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 10-04-25; Version: 16
//
RX   PubMed=25760436; DOI=10.1371/journal.pone.0118266; PMCID=PMC4356618;
RA   Li Y., Balasubramanian U., Cohen D., Zhang P.-W., Mosmiller E.,
RA   Sattler R., Maragakis N.J., Rothstein J.D.;
RT   "A comprehensive library of familial human amyotrophic lateral
RT   sclerosis induced pluripotent stem cells.";
RL   PLoS ONE 10:e0118266.1-e0118266.13(2015).
//