ID   WC023i-SMA-GM232
AC   CVCL_UB68
SY   SMA-3
DR   WiCell; wc023i-sma-gm232
DR   Wikidata; Q98134809
RX   PubMed=26190808;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (PubMed=26190808).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_Y965 ! GM00232
SX   Male
AG   7M
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 7
//
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. 5:12189-12189(2015).
//