ID   ND35671
AC   CVCL_T865
SY   ND35671*C
DR   Coriell; ND35671
DR   NHCDR; ND35671
DR   SKIP; SKIP001080
DR   SKIP; SKIP004697
DR   Wikidata; Q54929887
RX   PubMed=25760436;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Ala5Val (c.14C>T) (A4V); ClinVar=VCV000014763; Zygosity=Unspecified (NHCDR=ND35671).
CC   Discontinued: Coriell; ND35671; 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   Female
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 19
//
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).
//