ID   GM03813
AC   CVCL_F172
SY   GM 3813; SMA1FABE
DR   CLO; CLO_0015532
DR   BioSample; SAMN00808545
DR   Coriell; GM03813
DR   Wikidata; Q54838249
RX   CelloPub=CLPUB00447;
RX   PubMed=3941662;
RX   PubMed=26190808;
RX   PubMed=26247043;
RX   PubMed=28284873;
CC   Problematic cell line: Misclassified. Originally thought to be a SMA type 1 (SMA1) cell line but shown to be from a SMA type 2 (SMA2) (PubMed=28284873).
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM03813).
CC   Sequence variation: Mutation; HGNC; 11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Homozygous (Coriell=GM03813).
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,Y
ST   CSF1PO: 9,10
ST   D13S317: 9,11
ST   D16S539: 11,12
ST   D21S11: 29,30
ST   D5S818: 11,13
ST   D7S820: 9,10
ST   TH01: 6,7
ST   TPOX: 8
ST   vWA: 16,17
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   3Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 20
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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=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;
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;
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;
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).
//