ID   ND35666
AC   CVCL_T859
SY   ND35666*C
DR   Coriell; ND35666
DR   NHCDR; ND35666
DR   SKIP; SKIP001076
DR   SKIP; SKIP004693
DR   Wikidata; Q54929883
RX   PubMed=25760436;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Unspecified (Coriell=ND35666).
CC   Discontinued: Coriell; ND35666; 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)
HI   CVCL_T860 ! ND29509
SX   Male
AG   56Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 22
//
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).
//