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; HGNC:11118; SMN2; Triplication; Zygosity=Unspecified (Coriell=GM03813).
CC   Sequence variation: Mutation; HGNC; 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: 19-12-24; Version: 21
CH   CVCL_T825 ! GM24468
CH   CVCL_C877 ! iPS-SMA-3.5
CH   CVCL_C878 ! iPS-SMA-3.6
CH   CVCL_UB64 ! WC019i-SMA-GM13
//
RX   PubMed=28284873; DOI=10.1016/j.nmd.2017.02.002; PMCID=PMC5403612;
RA   Stabley, Deborah L.
RA   Holbrook, Jennifer
RA   Harris, Ashlee W.
RA   Swoboda, Kathryn J.
RA   Crawford, Thomas Owen
RA   Sol-Church, Katia
RA   Butchbach, Matthew 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=26190808; DOI=10.1038/srep12189; PMCID=PMC4507262;
RA   Liu, Hui-Sheng
RA   Lu, Jian-Feng
RA   Chen, Hong
RA   Du, Zhong-Wei
RA   Li, Xue-Jun
RA   Zhang, Su-Chun
RT   "Spinal muscular atrophy patient-derived motor neurons exhibit
RT   hyperexcitability.";
RL   Sci. Rep. 5:12189.1-12189.13(2015).
//
RX   PubMed=3941662; DOI=10.1016/0027-5107(86)90121-1;
RA   Scudiero, Dominic A.
RA   Polinsky, Ronald J.
RA   Brumback, Roger Alan
RA   Tarone, Robert E.
RA   Nee, Linda E.
RA   Robbins, Jay 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   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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=26247043; DOI=10.1002/mgg3.141; PMCID=PMC4521962;
RA   Stabley, Deborah L.
RA   Harris, Ashlee W.
RA   Holbrook, Jennifer
RA   Chubbs, Nicholas J.
RA   Lozo, Kevin W.
RA   Crawford, Thomas Owen
RA   Swoboda, Kathryn J.
RA   Funanage, Vicky L.
RA   Wang, Wen-Lan
RA   Mackenzie, William
RA   Scavina, Mena
RA   Sol-Church, Katia
RA   Butchbach, Matthew 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).
//