ID   WC019i-SMA-GM13
AC   CVCL_UB64
SY   SMA-1
DR   WiCell; wc019i-sma-gm13
DR   Wikidata; Q98134799
RX   PubMed=26190808;
CC   Problematic cell line: Misclassified. Parent cell line originally thought to be a SMA type 1 (SMA1) cell line but shown to be from a SMA type 2 (SMA2).
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM16143).
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (PubMed=26190808).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156310; Spinal muscular atrophy type 2
DI   ORDO; Orphanet_83418; Proximal spinal muscular atrophy type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F172 ! GM03813
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 13-11-18; Last updated: 30-01-24; 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).
//