ID   AIDHC-SP23
AC   CVCL_C1ZJ
DR   Wikidata; Q114310606
RX   PubMed=28284873;
CC   From: Nemours Children's Hospital; Wilmington; USA.
CC   Sequence variation: Gene amplification; HGNC; HGNC:11118; SMN2; Triplication; Zygosity=Unspecified (PubMed=28284873).
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: 11,14
ST   D16S539: 9,11
ST   D5S818: 12,13
ST   D7S820: 10,11
ST   TH01: 9.3,10
ST   TPOX: 8
ST   vWA: 19,20
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)
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).
//