ID   GM09677
AC   CVCL_W562
DR   CLO; CLO_0026536
DR   CLO; CLO_0037422
DR   Coriell; GM09677
DR   LINCS_LDP; LPC-1023
DR   Wikidata; Q54843945
RX   CelloPub=CLPUB00447;
RX   PubMed=26190808;
RX   PubMed=26247043;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM09677).
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)
SX   Male
AG   1Y11M
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 18
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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).
//
RX   PubMed=26247043; DOI=10.1002/mgg3.141;
RA   Stabley D.L., Harris A.W., Holbrook J., Chubbs N.J., Lozo K.W.,
RA   Crawford T.O., Swoboda K.J., Funanage V.L., Wang W.-L., Mackenzie W.,
RA   Scavina M., Sol-Church K., Butchbach M.E.R.;
RT   "SMN1 and SMN2 copy numbers in cell lines derived from patients with
RT   spinal muscular atrophy as measured by array digital PCR.";
RL   Mol. Genet. Genomic Med. 3:248-257(2015).
//