ID   WC020i-SMA-GM14
AC   CVCL_UB65
SY   Contl-2
DR   WiCell; wc020i-sma-gm14
DR   Wikidata; Q98134802
RX   PubMed=26190808;
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=26190808).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F173 ! GM03814
SX   Female
AG   30Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=26190808; DOI=10.1038/srep12189;
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).
//