ID   GM10684
AC   CVCL_W564
SY   GM10684B
DR   CLO; CLO_0024611
DR   CLO; CLO_0037445
DR   BioSample; SAMN00800154
DR   Coriell; GM10684
DR   LINCS_LDP; LPC-1046
DR   Wikidata; Q54844590
RX   CelloPub=CLPUB00447;
RX   PubMed=28284873;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM10684).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=28284873
ST   Amelogenin: X
ST   CSF1PO: 10,13
ST   D13S317: 8,11
ST   D16S539: 11,12
ST   D5S818: 7
ST   D7S820: 9,12
ST   TH01: 11,13
ST   TPOX: 8
ST   vWA: 17,18
DI   NCIt; C98670; Werdnig-Hoffmann disease
DI   ORDO; Orphanet_83330; Proximal spinal muscular atrophy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6M
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 16
//
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=28284873; DOI=10.1016/j.nmd.2017.02.002;
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).
//