ID   GM03814
AC   CVCL_F173
SY   GM 3814; SMAM1FABE
DR   CLO; CLO_0015534
DR   CLO; CLO_0037413
DR   BioSample; SAMN00808546
DR   Coriell; GM03814
DR   LINCS_LDP; LPC-1014
DR   Wikidata; Q54838250
RX   CelloPub=CLPUB00447;
RX   PubMed=3941662;
RX   PubMed=26190808;
RX   PubMed=26247043;
RX   PubMed=26651604;
RX   PubMed=28284873;
RX   PubMed=33197628;
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; HGNC:11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (PubMed=28284873; PubMed=33197628).
CC   Sequence variation: Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (PubMed=28284873).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=28284873
ST   Amelogenin: X
ST   CSF1PO: 9,10
ST   D13S317: 11,12
ST   D16S539: 11
ST   D21S11: 29
ST   D5S818: 12,13
ST   D7S820: 10
ST   TH01: 6,7
ST   TPOX: 8,11
ST   vWA: 14,16
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   30Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 19-12-24; 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   PubMed=3941662; DOI=10.1016/0027-5107(86)90121-1;
RA   Scudiero D.A., Polinsky R.J., Brumback R.A., Tarone R.E., Nee L.E.,
RA   Robbins J.H.;
RT   "Alzheimer disease fibroblasts are hypersensitive to the lethal effects
RT   of a DNA-damaging chemical.";
RL   Mutat. Res. 159:125-131(1986).
//
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. 5:12189.1-12189.13(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=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343;
RA   Schwab A.J., Ebert A.D.;
RT   "Neurite aggregation and calcium dysfunction in iPSC-derived sensory
RT   neurons with Parkinson's disease-related LRRK2 G2019S mutation.";
RL   Stem Cell Reports 5:1039-1052(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).
//
RX   PubMed=33197628; DOI=10.1016/j.jmoldx.2020.10.011; PMCID=PMC9641717;
RA   Prior T.W., Bayrak-Toydemir P., Lynnes T.C., Mao R., Metcalf J.D.,
RA   Muralidharan K., Iwata-Otsubo A., Pham H.T., Pratt V.M., Qureshi S.,
RA   Requesens D.V., Shen J.-Q., Vetrini F., Kalman L.V.;
RT   "Characterization of reference materials for spinal muscular atrophy
RT   genetic testing: a genetic testing reference materials coordination
RT   program collaborative project.";
RL   J. Mol. Diagn. 23:103-110(2021).
//