ID   GM00232
AC   CVCL_Y965
SY   GM-232; GM 232
DR   CLO; CLO_0025503
DR   EFO; EFO_0022555
DR   Coriell; GM00232
DR   LINCS_LDP; LPC-1021
DR   Wikidata; Q54836106
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=6458814;
RX   PubMed=26190808;
RX   PubMed=26247043;
RX   PubMed=28284873;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM00232).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=28284873
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 11,13
ST   D5S818: 13
ST   D7S820: 10,11
ST   TH01: 8,9.3
ST   TPOX: 8,11
ST   vWA: 15,17
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   7M
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 10-09-24; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   PubMed=6458814; DOI=10.1073/pnas.78.10.6451; PMCID=PMC349057;
RA   Scudiero D.A., Meyer S.A., Clatterbuck B.E., Tarone R.E.,
RA   Robbins J.H.;
RT   "Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in
RT   fibroblasts from patients with Huntington disease, familial
RT   dysautonomia, and other primary neuronal degenerations.";
RL   Proc. Natl. Acad. Sci. U.S.A. 78:6451-6455(1981).
//
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).
//
RX   PubMed=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962;
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).
//
RX   PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612;
RA   Stabley D.L., Holbrook J., Harris A.W., Swoboda K.J., Crawford T.O.,
RA   Sol-Church K., Butchbach M.E.R.;
RT   "Establishing a reference dataset for the authentication of spinal
RT   muscular atrophy cell lines using STR profiling and digital PCR.";
RL   Neuromuscul. Disord. 27:439-446(2017).
//