ID   WC035i-SOD1-D90D
AC   CVCL_UA50
SY   WiCell; wc035i-sod1-d90d
DR   Wikidata; Q98134815
RX   PubMed=24704493;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple_corrected; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Heterozygous; Note=By TALEN (PubMed=24704493).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=24704493
ST   Amelogenin: X
ST   CSF1PO: 9,11
ST   D13S317: 9,12
ST   D16S539: 9,12
ST   D5S818: 9,11
ST   D7S820: 8,9
ST   D8S1179: 10,15
ST   FGA: 21,22
ST   Penta D: 9,12
ST   Penta E: 10,11
ST   TPOX: 8
ST   vWA: 16,18
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_UA49 ! WC034i-SOD1-D90A
SX   Female
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=24704493; DOI=10.1016/j.stem.2014.02.004;
RA   Chen H., Qian K., Du Z.-W., Cao J.-Y., Petersen A., Liu H.-S.,
RA   Blackbourn L.W. IV, Huang C.T.-L., Errigo A., Yin Y.-N., Lu J.-F.,
RA   Ayala M., Zhang S.-C.;
RT   "Modeling ALS with iPSCs reveals that mutant SOD1 misregulates
RT   neurofilament balance in motor neurons.";
RL   Cell Stem Cell 14:796-809(2014).
//