ID   ND39027
AC   CVCL_T855
DR   Coriell; ND39027
DR   NHCDR; ND39027
DR   Wikidata; Q54930099
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=ND39027).
CC   Discontinued: Coriell; ND39027; 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_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_U113 ! ND10734
SX   Female
AG   50Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 18
//
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-E0118266(2015).
//