ID   KS-0217
AC   CVCL_C2A4
DR   Wikidata; Q114311847
RX   PubMed=28284873;
CC   From: University of Utah; Salt Lake City; USA.
CC   Sequence variation: Gene deletion; HGNC; HGNC:11117; SMN1; Zygosity=Homozygous (PubMed=28284873).
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): PubMed=28284873
ST   Amelogenin: X,Y
ST   CSF1PO: 11,12
ST   D13S317: 8,12
ST   D16S539: 11,12
ST   D5S818: 12,13
ST   D7S820: 11,12
ST   TH01: 9,9.3
ST   TPOX: 8
ST   vWA: 16,17
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   Age unspecified
CA   Finite cell line
DT   Created: 22-09-22; Last updated: 19-12-24; Version: 5
//
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).
//