ID   ND35668
AC   CVCL_T861
SY   ND35668*C
DR   Coriell; ND35668
DR   NHCDR; ND35668
DR   SKIP; SKIP001077
DR   SKIP; SKIP004694
DR   Wikidata; Q54929884
RX   PubMed=25760436;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Glu50Lys (c.148G>A) (E49K); ClinVar=VCV000658902; Zygosity=Unspecified (NHCDR=ND35668).
CC   Discontinued: Coriell; ND35668; 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_T862 ! ND39026
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; 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-E0118266(2015).
//