ID   WC022i-SMA-GM77
AC   CVCL_UB67
SY   SMA-2
DR   WiCell; wc022i-sma-gm77
DR   Wikidata; Q98134807
RX   PubMed=26190808;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (PubMed=26190808).
CC   Derived from site: In situ; Eye, ocular lens; UBERON=UBERON_0000965.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W562 ! GM09677
SX   Male
AG   1Y11M
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=26190808; DOI=10.1038/srep12189; PMCID=PMC4507262;
RA   Liu H.-S., Lu J.-F., Chen H., Du Z.-W., Li X.-J., Zhang S.-C.;
RT   "Spinal muscular atrophy patient-derived motor neurons exhibit
RT   hyperexcitability.";
RL   Sci. Rep. 5:12189.1-12189.13(2015).
//