ID   ND35663
AC   CVCL_T854
SY   ND35663*C
DR   Coriell; ND35663
DR   NHCDR; ND35663
DR   SKIP; SKIP001074
DR   SKIP; SKIP004691
DR   Wikidata; Q54929881
RX   PubMed=25760436;
CC   Population: Cape Verdian.
CC   Sequence variation: Mutation; HGNC; HGNC:4010; FUS; Simple; p.His517Gln (c.1551C>G); ClinVar=VCV000016221; Zygosity=Homozygous (NHCDR=ND35663).
CC   Discontinued: Coriell; ND35663; 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_T855 ! ND39027
SX   Female
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 10-04-25; Version: 21
//
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).
//