ID   ND35670
AC   CVCL_Y804
SY   ND35670*D
DR   Coriell; ND35670
DR   NHCDR; ND35670
DR   SKIP; SKIP001079
DR   SKIP; SKIP004696
DR   Wikidata; Q54929886
RX   PubMed=25760436;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Val149Gly (c.446T>G) (V148G); ClinVar=VCV000873204; Zygosity=Unspecified (NHCDR=ND35670).
CC   Discontinued: Coriell; ND35670; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; 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).
//